Gfm1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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895 records found for search term Gfm1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150340103	CV1167982	single nucleotide variant	NM_024996.7(GFM1):c.*9A>G	GFM1-related disorder [RCV003931165]\|not provided [RCV001534982]	likely benign	3	158691476	158691476	Human	1	name , trait , alternate_id
11590235	CV290043	single nucleotide variant	NM_024996.7(GFM1):c.*6C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000317038]\|not provided [RCV000676472]\|not specified [RCV001795960]	benign	3	158691473	158691473	Human	1	name
8691211	CV141171	single nucleotide variant	NM_024996.7(GFM1):c.-38C>T	GFM1-related disorder [RCV003925243]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000389427]\|not specified [RCV000125229]	benign\|likely benign\|uncertain significance	3	158644597	158644597	Human	1	name , trait , alternate_id
8691212	CV141172	single nucleotide variant	NM_024996.7(GFM1):c.-31A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000336135]\|not provided [RCV004717014]\|not specified [RCV000125230]	benign\|likely benign	3	158644604	158644604	Human	1	name
8691213	CV141173	single nucleotide variant	NM_024996.7(GFM1):c.-11C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000396594]\|not provided [RCV004715711]\|not specified [RCV000125231]	benign\|likely benign	3	158644624	158644624	Human	1	name
11591681	CV293519	single nucleotide variant	NM_024996.7(GFM1):c.-73C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000331237]\|not provided [RCV004710937]	likely benign	3	158644562	158644562	Human	1	name
11587444	CV293528	single nucleotide variant	NM_024996.7(GFM1):c.-33C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000295077]\|not provided [RCV001672626]	benign\|likely benign	3	158644602	158644602	Human	1	name
12846180	CV367287	single nucleotide variant	NM_024996.7(GFM1):c.-25C>T	not specified [RCV000441164]	likely benign	3	158644610	158644610	Human		name
28874257	CV888242	single nucleotide variant	NM_024996.7(GFM1):c.-85C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147126]	uncertain significance	3	158644550	158644550	Human	1	name
28874260	CV888243	single nucleotide variant	NM_024996.7(GFM1):c.-66C>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147127]	uncertain significance	3	158644569	158644569	Human	1	name
127250492	CV1055311	single nucleotide variant	NM_024996.7(GFM1):c.81+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001831352]\|not provided [RCV001378369]	likely pathogenic	3	158644716	158644716	Human	1	name
127247846	CV1055312	single nucleotide variant	NM_024996.7(GFM1):c.82-2A>C	not provided [RCV001377847]	likely pathogenic	3	158645627	158645627	Human		name
156446675	CV1948026	single nucleotide variant	NM_024996.7(GFM1):c.81+3A>G	not provided [RCV003118187]	uncertain significance	3	158644718	158644718	Human		name
156115444	CV1952307	deletion	NM_024996.7(GFM1):c.82-4del	not provided [RCV002571655]	benign	3	158645619	158645619	Human		name
156254398	CV2003644	duplication	NM_024996.7(GFM1):c.82-4dup	not provided [RCV002627557]	benign	3	158645618	158645619	Human		name
11654465	CV290044	single nucleotide variant	NM_024996.7(GFM1):c.*245A>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000317976]	uncertain significance	3	158691712	158691712	Human	1	name
11592969	CV290054	single nucleotide variant	NM_024996.7(GFM1):c.*713C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000343936]	benign\|likely benign	3	158692180	158692180	Human	1	name
11586768	CV293141	single nucleotide variant	NM_024996.7(GFM1):c.*766G>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000290294]	benign\|uncertain significance	3	158692233	158692233	Human	1	name
11593564	CV293147	single nucleotide variant	NM_024996.7(GFM1):c.*950C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000349969]	uncertain significance	3	158692417	158692417	Human	1	name
11651951	CV293531	single nucleotide variant	NM_024996.7(GFM1):c.81+5C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000301848]	uncertain significance	3	158644720	158644720	Human	1	name
11658907	CV293574	single nucleotide variant	NM_024996.7(GFM1):c.*119G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000353040]	uncertain significance	3	158691586	158691586	Human	1	name
11582927	CV293575	single nucleotide variant	NM_024996.7(GFM1):c.*226C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000262965]\|not provided [RCV001613134]	benign	3	158691693	158691693	Human	1	name
11655210	CV293589	single nucleotide variant	NM_024996.7(GFM1):c.*559T>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000323880]	uncertain significance	3	158692026	158692026	Human	1	name
11596146	CV293590	single nucleotide variant	NM_024996.7(GFM1):c.*578C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000378782]	uncertain significance	3	158692045	158692045	Human	1	name
11586567	CV293593	single nucleotide variant	NM_024996.7(GFM1):c.*691T>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000288969]\|not provided [RCV004716038]	benign	3	158692158	158692158	Human	1	name
11596629	CV293594	single nucleotide variant	NM_024996.7(GFM1):c.*731C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000384430]	benign\|uncertain significance	3	158692198	158692198	Human	1	name
14713874	CV659759	single nucleotide variant	NM_024996.5(GFM1):c.-386G>T	not provided [RCV000828840]	benign	3	158644249	158644249	Human		name
15121415	CV787365	single nucleotide variant	NM_024996.7(GFM1):c.81+7G>C	not provided [RCV000979465]	likely benign	3	158644722	158644722	Human		name
28881587	CV888249	single nucleotide variant	NM_024996.7(GFM1):c.*116C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001149673]\|not provided [RCV001569157]	likely benign	3	158691583	158691583	Human	1	name
28881591	CV888250	single nucleotide variant	NM_024996.7(GFM1):c.*164C>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001149674]	uncertain significance	3	158691631	158691631	Human	1	name
28870417	CV888251	single nucleotide variant	NM_024996.7(GFM1):c.*429C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145360]	uncertain significance	3	158691896	158691896	Human	1	name
28870420	CV888252	single nucleotide variant	NM_024996.7(GFM1):c.*539C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145361]	likely benign	3	158692006	158692006	Human	1	name
28870421	CV888253	single nucleotide variant	NM_024996.7(GFM1):c.*572A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145362]	uncertain significance	3	158692039	158692039	Human	1	name
28870424	CV888254	single nucleotide variant	NM_024996.7(GFM1):c.*635A>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145363]	uncertain significance	3	158692102	158692102	Human	1	name
28874651	CV888255	single nucleotide variant	NM_024996.7(GFM1):c.*803T>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147304]	uncertain significance	3	158692270	158692270	Human	1	name
127242184	CV1055313	single nucleotide variant	NM_024996.7(GFM1):c.234+1G>T	not provided [RCV001376884]	likely pathogenic	3	158645782	158645782	Human		name
127256916	CV1055314	single nucleotide variant	NM_024996.7(GFM1):c.573-1G>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001831371]\|Leigh syndrome [RCV005361584]\|not provided [RCV001379654]	likely pathogenic\|conflicting interpretations of pathogenicity	3	158649040	158649040	Human	2	name
127247587	CV1055315	single nucleotide variant	NM_024996.7(GFM1):c.999-1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001836383]\|not provided [RCV001377804]	likely pathogenic	3	158654546	158654546	Human	1	name
127237779	CV1070492	single nucleotide variant	NM_024996.7(GFM1):c.81+10C>T	not provided [RCV001397212]	likely benign	3	158644725	158644725	Human		name
127277694	CV1092206	single nucleotide variant	NM_024996.7(GFM1):c.690-7T>C	not provided [RCV001444576]	likely benign	3	158652089	158652089	Human		name
127334193	CV1113715	single nucleotide variant	NM_024996.7(GFM1):c.368-6A>T	not provided [RCV001473437]	likely benign	3	158646737	158646737	Human		name
127332702	CV1113718	single nucleotide variant	NM_024996.7(GFM1):c.572+9C>A	not provided [RCV001472408]	likely benign	3	158646956	158646956	Human		name
127325835	CV1113719	single nucleotide variant	NM_024996.7(GFM1):c.572+9C>T	not provided [RCV001468613]	likely benign	3	158646956	158646956	Human		name
127328440	CV1113722	single nucleotide variant	NM_024996.7(GFM1):c.998+7C>T	not provided [RCV001469541]	likely benign	3	158653474	158653474	Human		name
150409280	CV1175107	single nucleotide variant	NM_024996.7(GFM1):c.81+22A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543940]\|not provided [RCV001655851]	benign	3	158644737	158644737	Human	1	name
150409282	CV1175108	single nucleotide variant	NM_024996.7(GFM1):c.81+84C>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543941]\|not provided [RCV001713120]	benign	3	158644799	158644799	Human	1	name
151821579	CV1378593	single nucleotide variant	NM_024996.7(GFM1):c.689+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464159]\|not provided [RCV002029942]	likely pathogenic	3	158649158	158649158	Human	1	name
151885992	CV1418430	single nucleotide variant	NM_024996.7(GFM1):c.367+3G>A	not provided [RCV001887469]	uncertain significance	3	158646300	158646300	Human		name
152051901	CV1538862	single nucleotide variant	NM_024996.7(GFM1):c.998+8T>G	not provided [RCV002189515]	likely benign	3	158653475	158653475	Human		name
152139481	CV1555093	single nucleotide variant	NM_024996.7(GFM1):c.367+7T>C	not provided [RCV002200391]	likely benign	3	158646304	158646304	Human		name
152035767	CV1590480	single nucleotide variant	NM_024996.7(GFM1):c.235-7T>C	not provided [RCV002205549]	likely benign	3	158646158	158646158	Human		name
152028812	CV1639719	single nucleotide variant	NM_024996.7(GFM1):c.999-8A>C	not provided [RCV002085588]	likely benign	3	158654539	158654539	Human		name
156363440	CV1881513	single nucleotide variant	NM_024996.7(GFM1):c.368-2A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003465945]\|not provided [RCV003065787]	likely pathogenic	3	158646741	158646741	Human	1	name
156349393	CV1978156	single nucleotide variant	NM_024996.7(GFM1):c.841-4G>A	not provided [RCV002601713]	likely benign	3	158653306	158653306	Human		name
155932963	CV2067442	duplication	NM_024996.7(GFM1):c.999-4dup	not provided [RCV002838875]	benign	3	158654539	158654540	Human		name
155913810	CV2077800	single nucleotide variant	NM_024996.7(GFM1):c.998+2T>G	not provided [RCV002858685]	likely pathogenic	3	158653469	158653469	Human		name
155989161	CV2101916	single nucleotide variant	NM_024996.7(GFM1):c.689+8C>T	not provided [RCV002908073]	likely benign	3	158649165	158649165	Human		name
10410073	CV210958	single nucleotide variant	NM_024996.7(GFM1):c.690-5C>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001001208]\|not provided [RCV000415998]\|not specified [RCV000197431]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158652091	158652091	Human	1	name
156097392	CV2135895	single nucleotide variant	NM_024996.7(GFM1):c.840+4A>G	not provided [RCV002979847]	uncertain significance	3	158652250	158652250	Human		name
401941347	CV2836004	single nucleotide variant	NM_024996.7(GFM1):c.367+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461688]	likely pathogenic	3	158646298	158646298	Human	1	name
401941377	CV2836013	single nucleotide variant	NM_024996.7(GFM1):c.573-2A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461694]	likely pathogenic	3	158649039	158649039	Human	1	name
401943191	CV2836017	single nucleotide variant	NM_024996.7(GFM1):c.368-2A>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468271]	likely pathogenic	3	158646741	158646741	Human	1	name
401942862	CV2836025	single nucleotide variant	NM_024996.7(GFM1):c.999-1G>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468275]	likely pathogenic	3	158654546	158654546	Human	1	name
401942871	CV2836031	single nucleotide variant	NM_024996.7(GFM1):c.689+2T>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468277]	likely pathogenic	3	158649159	158649159	Human	1	name
402483895	CV2857479	single nucleotide variant	NM_024996.7(GFM1):c.81+19G>T	not provided [RCV003544289]	likely benign	3	158644734	158644734	Human		name
402515326	CV2860220	single nucleotide variant	NM_024996.7(GFM1):c.82-16C>T	not provided [RCV003575302]	likely benign	3	158645613	158645613	Human		name
405175739	CV2864624	single nucleotide variant	NM_024996.7(GFM1):c.998+1G>A	not provided [RCV003542741]	likely pathogenic	3	158653468	158653468	Human		name
405211924	CV2868042	single nucleotide variant	NM_024996.7(GFM1):c.235-1G>A	not provided [RCV003552647]	likely pathogenic	3	158646164	158646164	Human		name
402518413	CV2870752	duplication	NM_024996.7(GFM1):c.235-9dup	not provided [RCV003547513]	likely benign	3	158646154	158646155	Human		name
402506695	CV2880783	single nucleotide variant	NM_024996.7(GFM1):c.82-16C>G	not provided [RCV003546434]	likely benign	3	158645613	158645613	Human		name
11597475	CV289272	single nucleotide variant	NM_024996.7(GFM1):c.*1004T>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000394550]	uncertain significance	3	158692471	158692471	Human	1	name
405158205	CV2898144	single nucleotide variant	NM_024996.7(GFM1):c.82-13G>A	not provided [RCV003562205]	likely benign	3	158645616	158645616	Human		name
402519790	CV2902560	single nucleotide variant	NM_024996.7(GFM1):c.368-1G>C	not provided [RCV003575767]	likely pathogenic	3	158646742	158646742	Human		name
402508144	CV2924444	single nucleotide variant	NM_024996.7(GFM1):c.82-11A>G	not provided [RCV003574668]	likely benign	3	158645618	158645618	Human		name
405123109	CV2942504	single nucleotide variant	NM_024996.7(GFM1):c.999-9T>A	not provided [RCV003671687]	likely benign	3	158654538	158654538	Human		name
405242083	CV2970998	single nucleotide variant	NM_024996.7(GFM1):c.572+1G>A	not provided [RCV003684270]	likely pathogenic	3	158646948	158646948	Human		name
405215842	CV2977928	single nucleotide variant	NM_024996.7(GFM1):c.368-4T>G	not provided [RCV003709304]	likely benign	3	158646739	158646739	Human		name
405208356	CV2990782	single nucleotide variant	NM_024996.7(GFM1):c.841-9C>A	not provided [RCV003678930]	likely benign	3	158653301	158653301	Human		name
405114981	CV3019262	single nucleotide variant	NM_024996.7(GFM1):c.840+8C>T	not provided [RCV003700127]	likely benign	3	158652254	158652254	Human		name
405242640	CV3042931	single nucleotide variant	NM_024996.7(GFM1):c.82-14C>G	not provided [RCV003719545]	likely benign	3	158645615	158645615	Human		name
405250354	CV3043147	deletion	NM_024996.7(GFM1):c.689+2del	not provided [RCV003721597]	likely pathogenic	3	158649159	158649159	Human		name
405084922	CV3043772	single nucleotide variant	NM_024996.7(GFM1):c.82-15T>G	not provided [RCV003717405]	likely benign	3	158645614	158645614	Human		name
405253819	CV3045023	single nucleotide variant	NM_024996.7(GFM1):c.81+18G>A	not provided [RCV003722709]	likely benign	3	158644733	158644733	Human		name
405253453	CV3054201	single nucleotide variant	NM_024996.7(GFM1):c.81+11A>G	not provided [RCV003722534]	likely benign	3	158644726	158644726	Human		name
405048441	CV3079934	single nucleotide variant	NM_024996.7(GFM1):c.82-13G>T	not provided [RCV003740421]	likely benign	3	158645616	158645616	Human		name
405212651	CV3117875	single nucleotide variant	NM_024996.7(GFM1):c.82-14C>T	not provided [RCV003823474]	likely benign	3	158645615	158645615	Human		name
405211778	CV3146264	single nucleotide variant	NM_024996.7(GFM1):c.368-5T>C	not provided [RCV003845795]	likely benign	3	158646738	158646738	Human		name
405179260	CV3147354	single nucleotide variant	NM_024996.7(GFM1):c.81+12T>C	not provided [RCV003842256]	likely benign	3	158644727	158644727	Human		name
405078594	CV3156352	duplication	NM_024996.7(GFM1):c.234+7dup	not provided [RCV003851410]	likely benign	3	158645787	158645788	Human		name
405224082	CV3158450	single nucleotide variant	NM_024996.7(GFM1):c.81+13A>G	not provided [RCV003863946]	likely benign	3	158644728	158644728	Human		name
405243883	CV3161059	single nucleotide variant	NM_024996.7(GFM1):c.999-7T>C	not provided [RCV003867968]	likely benign	3	158654540	158654540	Human		name
402466946	CV3177708	single nucleotide variant	NM_024996.7(GFM1):c.81+17A>G	not provided [RCV003873146]	likely benign	3	158644732	158644732	Human		name
402497636	CV3179349	single nucleotide variant	NM_024996.7(GFM1):c.572+7A>G	not provided [RCV003877616]	likely benign	3	158646954	158646954	Human		name
597958861	CV3751993	single nucleotide variant	NM_024996.7(GFM1):c.82-18C>T	not provided [RCV005081123]	likely benign	3	158645611	158645611	Human		name
598123915	CV3885112	single nucleotide variant	NM_024996.7(GFM1):c.998+5G>A	not specified [RCV005238724]	uncertain significance	3	158653472	158653472	Human		name
28874653	CV888256	single nucleotide variant	NM_024996.7(GFM1):c.*1033A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147305]	uncertain significance	3	158692500	158692500	Human	1	name
127247338	CV1055316	single nucleotide variant	NM_024996.7(GFM1):c.1910-2A>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001826130]\|not provided [RCV001377756]	likely pathogenic	3	158690161	158690161	Human	1	name
127277305	CV1070502	single nucleotide variant	NM_024996.7(GFM1):c.840+10T>C	not provided [RCV001407679]	likely benign	3	158652256	158652256	Human		name
127273480	CV1070510	deletion	NM_024996.7(GFM1):c.1518+8del	not provided [RCV001406080]	likely benign	3	158665481	158665481	Human		name
127274615	CV1092211	single nucleotide variant	NM_024996.7(GFM1):c.1221+8C>T	not provided [RCV001442918]	likely benign	3	158659067	158659067	Human		name
127273397	CV1092213	single nucleotide variant	NM_024996.7(GFM1):c.1381-9C>G	not provided [RCV001431618]	likely benign	3	158665328	158665328	Human		name
127317745	CV1113731	single nucleotide variant	NM_024996.7(GFM1):c.1910-6A>C	not provided [RCV001465981]	likely benign	3	158690157	158690157	Human		name
127299364	CV1113732	single nucleotide variant	NM_024996.7(GFM1):c.2125-5C>T	not provided [RCV001453575]	likely benign	3	158691331	158691331	Human		name
127311012	CV1154322	deletion	NM_024996.7(GFM1):c.1222-3del	not provided [RCV001518467]	benign	3	158660865	158660865	Human		name
150409288	CV1175110	single nucleotide variant	NM_024996.7(GFM1):c.690-87A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543943]\|not provided [RCV001647392]	benign	3	158652009	158652009	Human	1	name
150420263	CV1179651	duplication	NM_024996.7(GFM1):c.81+283dup	not provided [RCV001551459]	likely benign	3	158644980	158644981	Human		name
150422989	CV1179652	single nucleotide variant	NM_024996.7(GFM1):c.368-34T>A	not provided [RCV001553401]	likely benign	3	158646709	158646709	Human		name
150423436	CV1183289	single nucleotide variant	NM_024996.7(GFM1):c.82-118A>G	not provided [RCV001555318]	likely benign	3	158645511	158645511	Human		name
150407027	CV1193275	single nucleotide variant	NM_024996.7(GFM1):c.235-85G>C	not provided [RCV001572216]	likely benign	3	158646080	158646080	Human		name
150421305	CV1197032	single nucleotide variant	NM_024996.7(GFM1):c.82-198G>A	not provided [RCV001577980]	likely benign	3	158645431	158645431	Human		name
150419410	CV1197034	deletion	NM_024996.7(GFM1):c.1910-8del	not provided [RCV001577167]	likely benign	3	158690142	158690142	Human		name
150442778	CV1204762	single nucleotide variant	NM_024996.7(GFM1):c.690-40G>A	not provided [RCV001583869]	likely benign	3	158652056	158652056	Human		name
150492444	CV1253936	single nucleotide variant	NM_024996.7(GFM1):c.690-96T>A	not provided [RCV001675032]	benign	3	158652000	158652000	Human		name
150501424	CV1256296	deletion	NM_024996.7(GFM1):c.81+283del	not provided [RCV001676920]	benign	3	158644981	158644981	Human		name
150542318	CV1314734	single nucleotide variant	NM_024996.7(GFM1):c.1764+2T>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003989093]	likely pathogenic	3	158682159	158682159	Human	1	name
151830166	CV1384389	single nucleotide variant	NM_024996.7(GFM1):c.2125-6C>A	not provided [RCV001955602]	likely benign\|uncertain significance	3	158691330	158691330	Human		name
8691204	CV141164	single nucleotide variant	NM_024996.7(GFM1):c.1083+6T>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000390538]\|not provided [RCV000676469]\|not specified [RCV000125222]	benign\|uncertain significance	3	158654637	158654637	Human	1	name
8691206	CV141166	single nucleotide variant	NM_024996.7(GFM1):c.1601+9G>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000400146]\|not provided [RCV000676470]\|not specified [RCV000125224]	benign\|likely benign\|uncertain significance	3	158666395	158666395	Human	1	name
151735446	CV1435622	single nucleotide variant	NM_024996.7(GFM1):c.1765-3C>T	not provided [RCV001946515]	uncertain significance	3	158684521	158684521	Human		name
151790897	CV1475482	single nucleotide variant	NM_024996.7(GFM1):c.1765-2A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471216]\|not provided [RCV001973042]	likely pathogenic	3	158684522	158684522	Human	1	name
151892616	CV1493761	single nucleotide variant	NM_024996.7(GFM1):c.690-16A>G	not provided [RCV001944300]	uncertain significance	3	158652080	158652080	Human		name
151765889	CV1516059	single nucleotide variant	NM_024996.7(GFM1):c.1380+1G>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005025666]\|not provided [RCV002024883]	likely pathogenic	3	158662685	158662685	Human	1	name
152107606	CV1529877	single nucleotide variant	NM_024996.7(GFM1):c.1518+7A>G	not provided [RCV002196358]	likely benign	3	158665481	158665481	Human		name
152100298	CV1539988	single nucleotide variant	NM_024996.7(GFM1):c.368-12C>A	not provided [RCV002095430]	likely benign	3	158646731	158646731	Human		name
152098759	CV1542475	single nucleotide variant	NM_024996.7(GFM1):c.2070+7A>G	not provided [RCV002195265]	likely benign	3	158690330	158690330	Human		name
152035862	CV1545850	single nucleotide variant	NM_024996.7(GFM1):c.1083+7T>G	not provided [RCV002164925]	likely benign	3	158654638	158654638	Human		name
152071341	CV1549088	single nucleotide variant	NM_024996.7(GFM1):c.234+19T>A	not provided [RCV002091628]	likely benign	3	158645800	158645800	Human		name
152139311	CV1562794	single nucleotide variant	NM_024996.7(GFM1):c.690-17A>G	not provided [RCV002100547]	likely benign	3	158652079	158652079	Human		name
152155504	CV1579645	single nucleotide variant	NM_024996.7(GFM1):c.1083+8G>A	not provided [RCV002158784]	likely benign	3	158654639	158654639	Human		name
152146084	CV1599906	deletion	NM_024996.7(GFM1):c.1910-6del	not provided [RCV002138823]	likely benign	3	158690156	158690156	Human		name
152119378	CV1600956	duplication	NM_024996.7(GFM1):c.1222-3dup	not provided [RCV002154062]	benign	3	158660864	158660865	Human		name
152165980	CV1611493	single nucleotide variant	NM_024996.7(GFM1):c.1084-8A>G	not provided [RCV002141829]	likely benign	3	158658914	158658914	Human		name
152074244	CV1638151	single nucleotide variant	NM_024996.7(GFM1):c.1910-4C>T	not provided [RCV002192202]	likely benign	3	158690159	158690159	Human		name
152158096	CV1639583	single nucleotide variant	NM_024996.7(GFM1):c.1519-6T>C	not provided [RCV002180433]	likely benign	3	158666298	158666298	Human		name
152135830	CV1642506	duplication	NM_024996.7(GFM1):c.1910-6dup	not provided [RCV002119691]	likely benign	3	158690155	158690156	Human		name
152165148	CV1648983	single nucleotide variant	NM_024996.7(GFM1):c.1222-8T>G	not provided [RCV002204181]	likely benign	3	158660866	158660866	Human		name
156325485	CV1871184	single nucleotide variant	NM_024996.7(GFM1):c.1380+2T>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003459734]\|not provided [RCV003063372]	likely pathogenic	3	158662686	158662686	Human	1	name
156315136	CV1928200	single nucleotide variant	NM_024996.7(GFM1):c.573-18T>A	not provided [RCV002630010]	likely benign	3	158649023	158649023	Human		name
156050246	CV1974339	single nucleotide variant	NM_024996.7(GFM1):c.1909+9G>C	not provided [RCV002590637]	likely benign	3	158684677	158684677	Human		name
156238280	CV1999685	single nucleotide variant	NM_024996.7(GFM1):c.1222-7T>G	not provided [RCV002667838]	likely benign	3	158660867	158660867	Human		name
156117700	CV2035677	single nucleotide variant	NM_024996.7(GFM1):c.690-18A>G	not provided [RCV002785659]	likely benign	3	158652078	158652078	Human		name
10410533	CV210952	single nucleotide variant	NM_024996.7(GFM1):c.235-14G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000307563]\|not provided [RCV002054327]\|not specified [RCV000198372]	benign\|uncertain significance	3	158646151	158646151	Human	1	name
10410886	CV210955	single nucleotide variant	NM_024996.7(GFM1):c.368-18A>G	not provided [RCV002054328]\|not specified [RCV000199107]	benign	3	158646725	158646725	Human		name
155958766	CV2138154	single nucleotide variant	NM_024996.7(GFM1):c.1084-7C>T	not provided [RCV002972275]	likely benign	3	158658915	158658915	Human		name
155967597	CV2142647	single nucleotide variant	NM_024996.7(GFM1):c.1380+7G>C	not provided [RCV002995466]	likely benign	3	158662691	158662691	Human		name
156298761	CV2159462	single nucleotide variant	NM_024996.7(GFM1):c.2071-8G>C	not provided [RCV003045450]	likely benign	3	158691131	158691131	Human		name
156357157	CV2166052	single nucleotide variant	NM_024996.7(GFM1):c.367+20T>G	not provided [RCV003031311]	likely benign	3	158646317	158646317	Human		name
156298011	CV2186235	single nucleotide variant	NM_024996.7(GFM1):c.1380+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005028135]\|not provided [RCV003061825]	likely pathogenic	3	158662685	158662685	Human	1	name
401937787	CV2797044	single nucleotide variant	NM_024996.7(GFM1):c.1764+1G>T	GFM1-related disorder [RCV003416882]	likely pathogenic	3	158682158	158682158	Human		name , trait , alternate_id
401941350	CV2836009	single nucleotide variant	NM_024996.7(GFM1):c.1909+2T>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461691]	likely pathogenic	3	158684670	158684670	Human	1	name
401943171	CV2836021	single nucleotide variant	NM_024996.7(GFM1):c.1381-1G>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468272]	likely pathogenic	3	158665336	158665336	Human	1	name
405170349	CV2854340	single nucleotide variant	NM_024996.7(GFM1):c.1222-6T>C	not provided [RCV003542115]	likely benign	3	158660868	158660868	Human		name
405203892	CV2858461	deletion	NM_024996.7(GFM1):c.1602-2del	not provided [RCV003551696]	likely pathogenic	3	158681993	158681993	Human		name
402487349	CV2861722	deletion	NM_024996.7(GFM1):c.690-11del	not provided [RCV003544609]	likely benign	3	158652083	158652083	Human		name
405026822	CV2889959	single nucleotide variant	NM_024996.7(GFM1):c.367+14T>C	not provided [RCV003578042]	likely benign	3	158646311	158646311	Human		name
405114757	CV2896697	single nucleotide variant	NM_024996.7(GFM1):c.2070+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004574120]\|not provided [RCV003558302]	likely pathogenic	3	158690324	158690324	Human	1	name
405136086	CV2896887	single nucleotide variant	NM_024996.7(GFM1):c.689+14A>C	not provided [RCV003560381]	likely benign	3	158649171	158649171	Human		name
405157721	CV2898041	single nucleotide variant	NM_024996.7(GFM1):c.998+15T>C	not provided [RCV003562175]	likely benign	3	158653482	158653482	Human		name
405220721	CV2904232	single nucleotide variant	NM_024996.7(GFM1):c.367+15T>G	not provided [RCV003568344]	likely benign	3	158646312	158646312	Human		name
402471477	CV2904479	single nucleotide variant	NM_024996.7(GFM1):c.368-15C>A	not provided [RCV003570529]	likely benign	3	158646728	158646728	Human		name
405064606	CV2927382	single nucleotide variant	NM_024996.7(GFM1):c.1083+8G>C	not provided [RCV003580725]	likely benign	3	158654639	158654639	Human		name
11597816	CV293121	single nucleotide variant	NM_024996.7(GFM1):c.234+12C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000398325]\|not provided [RCV002057851]	likely benign\|uncertain significance	3	158645793	158645793	Human	1	name
11592690	CV293122	single nucleotide variant	NM_024996.7(GFM1):c.1083+3A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000341073]\|Inborn genetic diseases [RCV002523249]\|not provided [RCV001636960]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158654634	158654634	Human	2	name
405177063	CV2952044	single nucleotide variant	NM_024996.7(GFM1):c.690-14A>G	not provided [RCV003675924]	likely benign	3	158652082	158652082	Human		name
405132542	CV2959239	single nucleotide variant	NM_024996.7(GFM1):c.1909+7T>A	not provided [RCV003668508]	likely benign	3	158684675	158684675	Human		name
405165317	CV2960739	single nucleotide variant	NM_024996.7(GFM1):c.841-10T>G	not provided [RCV003674986]	likely benign	3	158653300	158653300	Human		name
405137820	CV2963202	single nucleotide variant	NM_024996.7(GFM1):c.573-13T>C	not provided [RCV003668881]	likely benign	3	158649028	158649028	Human		name
405210346	CV2970507	single nucleotide variant	NM_024996.7(GFM1):c.1222-9T>C	not provided [RCV003679267]	likely benign	3	158660865	158660865	Human		name
405223847	CV2982638	single nucleotide variant	NM_024996.7(GFM1):c.1602-7C>T	not provided [RCV003681026]	likely benign	3	158681988	158681988	Human		name
402516844	CV2992269	single nucleotide variant	NM_024996.7(GFM1):c.1909+8G>A	not provided [RCV003689998]	likely benign	3	158684676	158684676	Human		name
405022558	CV2992845	single nucleotide variant	NM_024996.7(GFM1):c.2071-1G>C	not provided [RCV003694885]	likely pathogenic	3	158691138	158691138	Human		name
404991109	CV2995165	single nucleotide variant	NM_024996.7(GFM1):c.2125-9A>C	not provided [RCV003692292]	likely benign	3	158691327	158691327	Human		name
405249943	CV2997136	single nucleotide variant	NM_024996.7(GFM1):c.2125-4C>A	not provided [RCV003721481]	likely benign	3	158691332	158691332	Human		name
402521737	CV3011247	single nucleotide variant	NM_024996.7(GFM1):c.1601+7A>G	not provided [RCV003716483]	likely benign	3	158666393	158666393	Human		name
405168687	CV3029131	single nucleotide variant	NM_024996.7(GFM1):c.1221+1G>A	not provided [RCV003704511]	likely pathogenic	3	158659060	158659060	Human		name
405198484	CV3032829	single nucleotide variant	NM_024996.7(GFM1):c.1765-7T>C	not provided [RCV003707203]	likely benign	3	158684517	158684517	Human		name
405156829	CV3037456	single nucleotide variant	NM_024996.7(GFM1):c.367+11T>G	not provided [RCV003703684]	likely benign	3	158646308	158646308	Human		name
405199917	CV3041163	single nucleotide variant	NM_024996.7(GFM1):c.367+13C>G	not provided [RCV003707343]	likely benign	3	158646310	158646310	Human		name
405245955	CV3051732	single nucleotide variant	NM_024996.7(GFM1):c.1323+9T>C	not provided [RCV003720430]	likely benign	3	158660984	158660984	Human		name
405178947	CV3056466	single nucleotide variant	NM_024996.7(GFM1):c.368-14T>C	not provided [RCV003728523]	likely benign	3	158646729	158646729	Human		name
405155522	CV3064788	single nucleotide variant	NM_024996.7(GFM1):c.572+17T>G	not provided [RCV003726718]	likely benign	3	158646964	158646964	Human		name
405246103	CV3075732	single nucleotide variant	NM_024996.7(GFM1):c.689+20T>G	not provided [RCV003738641]	likely benign	3	158649177	158649177	Human		name
405028733	CV3076382	duplication	NM_024996.7(GFM1):c.1324-9dup	not provided [RCV003738982]	benign	3	158662613	158662614	Human		name
404985434	CV3128370	single nucleotide variant	NM_024996.7(GFM1):c.572+15A>C	not provided [RCV003826643]	likely benign	3	158646962	158646962	Human		name
405125343	CV3132686	single nucleotide variant	NM_024996.7(GFM1):c.1910-9T>G	not provided [RCV003837849]	likely benign	3	158690154	158690154	Human		name
405078405	CV3137020	single nucleotide variant	NM_024996.7(GFM1):c.234+13G>A	not provided [RCV003833919]	likely benign	3	158645794	158645794	Human		name
405197723	CV3146779	single nucleotide variant	NM_024996.7(GFM1):c.1221+8C>G	not provided [RCV003844134]	likely benign	3	158659067	158659067	Human		name
405159177	CV3159860	single nucleotide variant	NM_024996.7(GFM1):c.1519-1G>C	not provided [RCV003856931]	likely pathogenic	3	158666303	158666303	Human		name
405095230	CV3164215	single nucleotide variant	NM_024996.7(GFM1):c.998+10G>A	not provided [RCV003852530]	likely benign	3	158653477	158653477	Human		name
405201436	CV3164970	single nucleotide variant	NM_024996.7(GFM1):c.998+20T>C	not provided [RCV003860831]	likely benign	3	158653487	158653487	Human		name
405239938	CV3166059	single nucleotide variant	NM_024996.7(GFM1):c.1380+9T>C	not provided [RCV003867071]	likely benign	3	158662693	158662693	Human		name
405226825	CV3169487	single nucleotide variant	NM_024996.7(GFM1):c.367+15T>C	not provided [RCV003864511]	likely benign	3	158646312	158646312	Human		name
402470605	CV3171124	single nucleotide variant	NM_024996.7(GFM1):c.573-17G>A	not provided [RCV003874087]	likely benign	3	158649024	158649024	Human		name
402485803	CV3171385	single nucleotide variant	NM_024996.7(GFM1):c.999-19A>G	not provided [RCV003876412]	likely benign	3	158654528	158654528	Human		name
402472747	CV3172035	single nucleotide variant	NM_024996.7(GFM1):c.573-18T>C	not provided [RCV003874638]	likely benign	3	158649023	158649023	Human		name
402467818	CV3174184	single nucleotide variant	NM_024996.7(GFM1):c.690-13T>C	not provided [RCV003873467]	likely benign	3	158652083	158652083	Human		name
405252381	CV3177940	single nucleotide variant	NM_024996.7(GFM1):c.840+12C>T	not provided [RCV003870720]	likely benign	3	158652258	158652258	Human		name
402511378	CV3178377	single nucleotide variant	NM_024996.7(GFM1):c.690-19A>G	not provided [RCV003878994]	likely benign	3	158652077	158652077	Human		name
405868980	CV3400681	single nucleotide variant	NM_024996.7(GFM1):c.1083+1G>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576684]	likely pathogenic	3	158654632	158654632	Human	1	name
405868982	CV3400682	single nucleotide variant	NM_024996.7(GFM1):c.2125-1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576685]	likely pathogenic	3	158691335	158691335	Human	1	name
12845051	CV367253	single nucleotide variant	NM_024996.7(GFM1):c.234+17G>A	not provided [RCV002525444]\|not specified [RCV000439110]	likely benign	3	158645798	158645798	Human		name
597683353	CV3720937	single nucleotide variant	NM_024996.7(GFM1):c.1084-2A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005031317]	likely pathogenic	3	158658920	158658920	Human	1	name
597683363	CV3720938	single nucleotide variant	NM_024996.7(GFM1):c.1324-2A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005031318]	likely pathogenic	3	158662626	158662626	Human	1	name
597683374	CV3720939	single nucleotide variant	NM_024996.7(GFM1):c.1380+1G>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005031319]	likely pathogenic	3	158662685	158662685	Human	1	name
597950952	CV3769380	single nucleotide variant	NM_024996.7(GFM1):c.2070+1G>T	not provided [RCV005120939]	likely pathogenic	3	158690324	158690324	Human		name
597946795	CV3774964	single nucleotide variant	NM_024996.7(GFM1):c.840+17T>G	not provided [RCV005120061]	likely benign	3	158652263	158652263	Human		name
597850534	CV3803252	single nucleotide variant	NM_024996.7(GFM1):c.2125-7T>C	not provided [RCV005145369]	likely benign	3	158691329	158691329	Human		name
597944991	CV3812612	single nucleotide variant	NM_024996.7(GFM1):c.235-16C>T	not provided [RCV005159822]	likely benign	3	158646149	158646149	Human		name
14693707	CV620757	single nucleotide variant	NM_024996.7(GFM1):c.1518+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000779395]	uncertain significance	3	158665475	158665475	Human		name
14693708	CV620758	single nucleotide variant	NM_024996.7(GFM1):c.1910-1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000779396]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	158690162	158690162	Human	1	name
15147025	CV774813	single nucleotide variant	NM_024996.7(GFM1):c.1083+8G>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272461]\|not provided [RCV000944842]	likely benign\|uncertain significance	3	158654639	158654639	Human	1	name
38489231	CV939931	single nucleotide variant	NM_024996.7(GFM1):c.1601+1G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462703]\|not provided [RCV001210116]	likely pathogenic	3	158666387	158666387	Human	1	name
126740219	CV1016195	single nucleotide variant	NM_024996.7(GFM1):c.1221+20G>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001329385]\|not provided [RCV003727981]	likely benign\|uncertain significance	3	158659079	158659079	Human	1	name
150336891	CV1171064	single nucleotide variant	NM_024996.7(GFM1):c.1381-39C>T	not provided [RCV001541258]	likely benign	3	158665298	158665298	Human		name
150409285	CV1175109	single nucleotide variant	NM_024996.7(GFM1):c.689+891C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543942]\|not provided [RCV001694070]	benign	3	158650048	158650048	Human	1	name
150409289	CV1175111	single nucleotide variant	NM_024996.7(GFM1):c.1083+57C>T	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543944]\|not provided [RCV001638146]	benign	3	158654688	158654688	Human	1	name
150409292	CV1175112	single nucleotide variant	NM_024996.7(GFM1):c.1083+82T>C	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543945]\|not provided [RCV001713121]	benign	3	158654713	158654713	Human	1	name
150409293	CV1175113	single nucleotide variant	NM_024996.7(GFM1):c.1323+72A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543946]\|not provided [RCV001619959]	benign	3	158661047	158661047	Human	1	name
150409297	CV1175114	single nucleotide variant	NM_024996.7(GFM1):c.1519-25A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543948]\|not provided [RCV001655852]	benign	3	158666279	158666279	Human	1	name
150418912	CV1179654	single nucleotide variant	NM_024996.7(GFM1):c.1519-33A>T	not provided [RCV001550808]	likely benign	3	158666271	158666271	Human		name
150428587	CV1186554	single nucleotide variant	NM_024996.7(GFM1):c.368-177G>A	not provided [RCV001562453]	likely benign	3	158646566	158646566	Human		name
150409316	CV1190007	single nucleotide variant	NM_024996.7(GFM1):c.1601+90T>G	not provided [RCV001565625]	likely benign	3	158666476	158666476	Human		name
150416263	CV1197033	single nucleotide variant	NM_024996.7(GFM1):c.1765-94C>T	not provided [RCV001575761]	likely benign	3	158684430	158684430	Human		name
150432738	CV1200777	single nucleotide variant	NM_024996.7(GFM1):c.840+317T>C	not provided [RCV001581501]	likely benign	3	158652563	158652563	Human		name
150466422	CV1201241	single nucleotide variant	NM_024996.7(GFM1):c.1909+41A>G	not provided [RCV001587721]	likely benign	3	158684709	158684709	Human		name
150433807	CV1217017	single nucleotide variant	NM_024996.7(GFM1):c.689+200A>G	not provided [RCV001608919]	benign	3	158649357	158649357	Human		name
150460596	CV1234662	single nucleotide variant	NM_024996.7(GFM1):c.234+187A>G	not provided [RCV001649244]	benign	3	158645968	158645968	Human		name
150480978	CV1239690	single nucleotide variant	NM_024996.7(GFM1):c.841-224C>T	not provided [RCV001652853]	benign	3	158653086	158653086	Human		name
150469970	CV1243247	duplication	NM_024996.7(GFM1):c.1602-17dup	not provided [RCV001650768]	benign	3	158681968	158681969	Human		name
150472702	CV1259341	duplication	NM_024996.7(GFM1):c.2125-26dup	not provided [RCV001684587]	benign	3	158691304	158691305	Human		name
150439567	CV1264986	duplication	NM_024996.7(GFM1):c.998+302dup	not provided [RCV001678979]	benign	3	158653757	158653758	Human		name
150489418	CV1265420	single nucleotide variant	NM_024996.7(GFM1):c.999-221A>T	not provided [RCV001687456]	benign	3	158654326	158654326	Human		name
150457666	CV1278658	single nucleotide variant	NM_024996.7(GFM1):c.368-199G>A	not provided [RCV001709274]	benign	3	158646544	158646544	Human		name
150500866	CV1283913	deletion	NM_024996.7(GFM1):c.690-262del	not provided [RCV001718482]	benign	3	158651825	158651825	Human		name
151806411	CV1401669	deletion	NM_024996.7(GFM1):c.690_693del	GFM1-related disorder [RCV003416518]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002506920]\|not provided [RCV001932580]	pathogenic\|likely pathogenic	3	158652094	158652097	Human	1	name , trait , alternate_id
8691210	CV141170	single nucleotide variant	NM_024996.7(GFM1):c.2071-17A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002483248]\|not provided [RCV002055557]\|not specified [RCV000125228]	benign\|likely benign	3	158691122	158691122	Human	1	name
152165936	CV1611480	single nucleotide variant	NM_024996.7(GFM1):c.1909+10G>A	not provided [RCV002141819]	likely benign	3	158684678	158684678	Human		name
156025558	CV1896186	single nucleotide variant	NM_024996.7(GFM1):c.1222-13T>C	not provided [RCV003100409]	likely benign	3	158660861	158660861	Human		name
156416723	CV1969957	single nucleotide variant	NM_024996.7(GFM1):c.1519-10C>T	not provided [RCV002589839]	likely benign	3	158666294	158666294	Human		name
156090801	CV2017664	deletion	NM_024996.7(GFM1):c.1324-15del	not provided [RCV002694934]	benign	3	158662610	158662610	Human		name
156184999	CV2086508	single nucleotide variant	NM_024996.7(GFM1):c.1601+17A>C	not provided [RCV002851955]	likely benign	3	158666403	158666403	Human		name
155990114	CV2102000	deletion	NM_024996.7(GFM1):c.1519-16del	not provided [RCV002908119]	likely benign	3	158666285	158666285	Human		name
156371983	CV2174670	single nucleotide variant	NM_024996.7(GFM1):c.1222-10G>A	not provided [RCV003049778]	likely benign	3	158660864	158660864	Human		name
156144157	CV2190144	single nucleotide variant	NM_024996.7(GFM1):c.2071-10T>C	not provided [RCV003056297]	likely benign	3	158691129	158691129	Human		name
402514395	CV2860118	single nucleotide variant	NM_024996.7(GFM1):c.1909+18A>G	not provided [RCV003575271]	likely benign	3	158684686	158684686	Human		name
405174598	CV2863454	single nucleotide variant	NM_024996.7(GFM1):c.1381-17T>C	not provided [RCV003542625]	likely benign	3	158665320	158665320	Human		name
402488950	CV2866446	single nucleotide variant	NM_024996.7(GFM1):c.1083+14T>C	not provided [RCV003572815]	likely benign	3	158654645	158654645	Human		name
11586308	CV289270	single nucleotide variant	NM_024996.7(GFM1):c.1324-15T>A	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000286924]\|not provided [RCV002057852]\|not specified [RCV000424127]	benign\|likely benign\|uncertain significance	3	158662613	158662613	Human	1	name
405153002	CV2893958	single nucleotide variant	NM_024996.7(GFM1):c.1381-11T>C	not provided [RCV003561859]	likely benign	3	158665326	158665326	Human		name
402519109	CV2906274	deletion	NM_024996.7(GFM1):c.1764+17del	not provided [RCV003575714]	likely benign	3	158682174	158682174	Human		name
405177303	CV2912862	single nucleotide variant	NM_024996.7(GFM1):c.1601+13C>A	not provided [RCV003563649]	likely benign	3	158666399	158666399	Human		name
402483454	CV2918115	single nucleotide variant	NM_024996.7(GFM1):c.1601+16A>C	not provided [RCV003572306]	likely benign	3	158666402	158666402	Human		name
402483758	CV2922227	duplication	NM_024996.7(GFM1):c.1084-19dup	not provided [RCV003572335]	likely benign	3	158658902	158658903	Human		name
405006228	CV2929484	single nucleotide variant	NM_024996.7(GFM1):c.1765-20T>C	not provided [RCV003576314]	likely benign	3	158684504	158684504	Human		name
405211185	CV2966936	single nucleotide variant	NM_024996.7(GFM1):c.1519-15C>T	not provided [RCV003679419]	likely benign	3	158666289	158666289	Human		name
405211570	CV2967032	single nucleotide variant	NM_024996.7(GFM1):c.1602-18T>C	not provided [RCV003679473]	likely benign	3	158681977	158681977	Human		name
405242140	CV2971013	single nucleotide variant	NM_024996.7(GFM1):c.1764+17G>A	not provided [RCV003684282]	likely benign	3	158682174	158682174	Human		name
405242916	CV2974781	single nucleotide variant	NM_024996.7(GFM1):c.1519-19T>C	not provided [RCV003684466]	likely benign	3	158666285	158666285	Human		name
405216620	CV2975335	deletion	NM_024996.7(GFM1):c.1764+16del	not provided [RCV003679994]	benign	3	158682168	158682168	Human		name
405235561	CV2976587	single nucleotide variant	NM_024996.7(GFM1):c.1324-14A>T	not provided [RCV003683019]	likely benign	3	158662614	158662614	Human		name
405214578	CV2985054	single nucleotide variant	NM_024996.7(GFM1):c.1083+10T>A	not provided [RCV003709033]	likely benign	3	158654641	158654641	Human		name
405240606	CV2990138	microsatellite	NM_024996.7(GFM1):c.234+2TA[5]	not provided [RCV003683928]	likely benign	3	158645782	158645783	Human		name
402479163	CV2990403	single nucleotide variant	NM_024996.7(GFM1):c.1910-13T>A	not provided [RCV003686415]	likely benign	3	158690150	158690150	Human		name
405235020	CV3040612	single nucleotide variant	NM_024996.7(GFM1):c.1324-18T>C	not provided [RCV003712090]	likely benign	3	158662610	158662610	Human		name
405084196	CV3043649	single nucleotide variant	NM_024996.7(GFM1):c.2070+10C>G	not provided [RCV003717357]	likely benign	3	158690333	158690333	Human		name
405123061	CV3046522	single nucleotide variant	NM_024996.7(GFM1):c.1765-12A>C	not provided [RCV003724103]	likely benign	3	158684512	158684512	Human		name
405081995	CV3046672	single nucleotide variant	NM_024996.7(GFM1):c.1602-14T>A	not provided [RCV003717145]	likely benign	3	158681981	158681981	Human		name
405136657	CV3048365	deletion	NM_024996.7(GFM1):c.1909+16del	not provided [RCV003725269]	likely benign	3	158684682	158684682	Human		name
405243876	CV3053959	single nucleotide variant	NM_024996.7(GFM1):c.1909+14G>A	not provided [RCV003719840]	likely benign	3	158684682	158684682	Human		name
405092287	CV3054676	single nucleotide variant	NM_024996.7(GFM1):c.1380+11G>A	not provided [RCV003717903]	likely benign	3	158662695	158662695	Human		name
405254428	CV3055357	single nucleotide variant	NM_024996.7(GFM1):c.2125-17T>C	not provided [RCV003723007]	likely benign	3	158691319	158691319	Human		name
405228830	CV3065976	single nucleotide variant	NM_024996.7(GFM1):c.1221+16T>C	not provided [RCV003734538]	likely benign	3	158659075	158659075	Human		name
405225648	CV3068402	single nucleotide variant	NM_024996.7(GFM1):c.1381-15C>A	not provided [RCV003733995]	likely benign	3	158665322	158665322	Human		name
405042943	CV3074145	single nucleotide variant	NM_024996.7(GFM1):c.1084-15A>C	not provided [RCV003740060]	likely benign	3	158658907	158658907	Human		name
405028272	CV3076271	single nucleotide variant	NM_024996.7(GFM1):c.1601+13C>T	not provided [RCV003738948]	likely benign	3	158666399	158666399	Human		name
405236528	CV3076621	single nucleotide variant	NM_024996.7(GFM1):c.1765-11T>C	not provided [RCV003735999]	likely benign	3	158684513	158684513	Human		name
405048424	CV3079933	single nucleotide variant	NM_024996.7(GFM1):c.1084-18C>A	not provided [RCV003740420]	likely benign	3	158658904	158658904	Human		name
405048770	CV3080029	single nucleotide variant	NM_024996.7(GFM1):c.2124+20C>G	not provided [RCV003740443]	likely benign	3	158691212	158691212	Human		name
405138309	CV3125379	single nucleotide variant	NM_024996.7(GFM1):c.2124+20C>A	not provided [RCV003816486]	likely benign	3	158691212	158691212	Human		name
405143035	CV3141314	single nucleotide variant	NM_024996.7(GFM1):c.1381-13T>C	not provided [RCV003839430]	likely benign	3	158665324	158665324	Human		name
405233017	CV3144909	single nucleotide variant	NM_024996.7(GFM1):c.1084-13T>C	not provided [RCV003853166]	likely benign	3	158658909	158658909	Human		name
405050868	CV3150947	single nucleotide variant	NM_024996.7(GFM1):c.2071-12G>A	not provided [RCV003849551]	likely benign	3	158691127	158691127	Human		name
405165545	CV3160450	single nucleotide variant	NM_024996.7(GFM1):c.1909+20C>T	not provided [RCV003857330]	likely benign	3	158684688	158684688	Human		name
402465025	CV3177060	single nucleotide variant	NM_024996.7(GFM1):c.1764+18T>C	not provided [RCV003872691]	likely benign	3	158682175	158682175	Human		name
405283131	CV3218500	single nucleotide variant	NM_024996.7(GFM1):c.689+884T>C	GFM1-related disorder [RCV003957290]	likely benign	3	158650041	158650041	Human		name , trait , alternate_id
12842496	CV367009	single nucleotide variant	NM_024996.7(GFM1):c.1764+11A>T	GFM1-related disorder [RCV003922707]\|not provided [RCV002061398]\|not specified [RCV000434519]	benign\|likely benign	3	158682168	158682168	Human	1	name , trait , alternate_id
12848392	CV367011	single nucleotide variant	NM_024996.7(GFM1):c.1909+13C>T	not provided [RCV002061399]\|not specified [RCV000445199]	benign\|likely benign	3	158684681	158684681	Human		name
12833320	CV368293	single nucleotide variant	NM_024996.7(GFM1):c.1909+13C>G	not provided [RCV002064932]\|not specified [RCV000418274]	benign\|likely benign	3	158684681	158684681	Human		name
597943216	CV3765746	single nucleotide variant	NM_024996.7(GFM1):c.2070+17A>G	not provided [RCV005119124]	likely benign	3	158690340	158690340	Human		name
597876745	CV3825679	single nucleotide variant	NM_024996.7(GFM1):c.1324-20T>C	not provided [RCV005177553]	likely benign	3	158662608	158662608	Human		name
597948412	CV3852490	single nucleotide variant	NM_024996.7(GFM1):c.1221+15A>C	not provided [RCV005189568]	likely benign	3	158659074	158659074	Human		name
598123386	CV3884906	single nucleotide variant	NM_024996.7(GFM1):c.689+887G>A	not specified [RCV005238515]	uncertain significance	3	158650044	158650044	Human		name
616934945	CV4009182	single nucleotide variant	NM_024996.7(GFM1):c.1519-10C>G	not provided [RCV005402354]	likely pathogenic	3	158666294	158666294	Human		name
12902465	CV406138	duplication	NM_024996.7(GFM1):c.2125-11dup	not provided [RCV003736791]\|not specified [RCV000487169]	benign\|likely benign	3	158691317	158691318	Human		name
13541192	CV500638	single nucleotide variant	NM_024996.7(GFM1):c.689+908G>A	Combined oxidative phosphorylation deficiency [RCV000851196]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003465353]\|not provided [RCV001377165]	pathogenic\|likely pathogenic\|likely benign	3	158650065	158650065	Human	2	name
13536850	CV500641	single nucleotide variant	NM_024996.7(GFM1):c.2071-20T>C	not provided [RCV002065262]\|not specified [RCV000609575]	benign\|likely benign	3	158691119	158691119	Human		name
13529930	CV500648	deletion	NM_024996.7(GFM1):c.2125-11del	not specified [RCV000600494]	likely benign	3	158691318	158691318	Human		name
14712892	CV659644	single nucleotide variant	NM_024996.7(GFM1):c.689+611A>G	not provided [RCV000828564]	benign	3	158649768	158649768	Human		name
14725357	CV659645	single nucleotide variant	NM_024996.7(GFM1):c.840+108C>G	not provided [RCV000833404]	likely benign	3	158652354	158652354	Human		name
14713901	CV659647	single nucleotide variant	NM_024996.7(GFM1):c.998+150G>A	not provided [RCV000828848]	benign	3	158653617	158653617	Human		name
14719374	CV659651	single nucleotide variant	NM_024996.7(GFM1):c.1323+83A>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543947]\|not provided [RCV000830746]	benign	3	158661058	158661058	Human	1	name
14736514	CV659655	single nucleotide variant	NM_024996.7(GFM1):c.1601+38A>G	not provided [RCV000838508]	benign	3	158666424	158666424	Human		name
14746204	CV659760	single nucleotide variant	NM_024996.7(GFM1):c.367+223C>T	not provided [RCV000844192]	benign	3	158646520	158646520	Human		name
28876717	CV891597	single nucleotide variant	NM_024996.7(GFM1):c.2070+11T>G	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148123]\|not provided [RCV001673019]	benign\|likely benign	3	158690334	158690334	Human	1	name
150418127	CV1179653	single nucleotide variant	NM_024996.7(GFM1):c.1519-211T>G	not provided [RCV001550465]	likely benign	3	158666093	158666093	Human		name
150423455	CV1183290	single nucleotide variant	NM_024996.7(GFM1):c.1221+203G>A	not provided [RCV001555345]	likely benign	3	158659262	158659262	Human		name
150424480	CV1183291	single nucleotide variant	NM_024996.7(GFM1):c.1222-321A>G	not provided [RCV001556710]	likely benign	3	158660553	158660553	Human		name
150410134	CV1190008	single nucleotide variant	NM_024996.7(GFM1):c.1909+232A>C	not provided [RCV001565897]	likely benign	3	158684900	158684900	Human		name
150432902	CV1200883	single nucleotide variant	NM_024996.7(GFM1):c.689+1184A>G	not provided [RCV001581607]	likely benign	3	158650341	158650341	Human		name
150487105	CV1203407	single nucleotide variant	NM_024996.7(GFM1):c.1084-299A>T	not provided [RCV001591585]	likely benign	3	158658623	158658623	Human		name
150430942	CV1204058	single nucleotide variant	NM_024996.7(GFM1):c.1909+131C>T	not provided [RCV001580833]	likely benign	3	158684799	158684799	Human		name
150467910	CV1207173	single nucleotide variant	NM_024996.7(GFM1):c.1221+222T>C	not provided [RCV001587965]	likely benign	3	158659281	158659281	Human		name
150499502	CV1209092	single nucleotide variant	NM_024996.7(GFM1):c.1221+323T>C	not provided [RCV001594310]	likely benign	3	158659382	158659382	Human		name
150451315	CV1232784	single nucleotide variant	NM_024996.7(GFM1):c.1380+221T>A	not provided [RCV001647859]	benign	3	158662905	158662905	Human		name
150474816	CV1252918	single nucleotide variant	NM_024996.7(GFM1):c.1765-298A>G	not provided [RCV001671826]	benign	3	158684226	158684226	Human		name
150494703	CV1267398	single nucleotide variant	NM_024996.7(GFM1):c.1324-267G>A	not provided [RCV001688426]	benign	3	158662361	158662361	Human		name
150478851	CV1273367	single nucleotide variant	NM_024996.7(GFM1):c.689+1211A>C	not provided [RCV001696570]	benign	3	158650368	158650368	Human		name
14713908	CV659894	single nucleotide variant	NM_024996.7(GFM1):c.1519-211T>C	not provided [RCV000828850]	benign	3	158666093	158666093	Human		name
11596009	CV290052	deletion	NM_024996.7(GFM1):c.454_456del	Combined oxidative phosphorylation deficiency [RCV000377206]	likely benign	3	158691919	158691921	Human	1	name
38487059	CV939930	deletion	NM_024996.7(GFM1):c.997_998+2del	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001833837]\|not provided [RCV001209160]	likely pathogenic	3	158653466	158653469	Human	1	name
405242852	CV3043828	microsatellite	NM_024996.7(GFM1):c.1381-17TTC[2]	not provided [RCV003719599]	likely benign	3	158665320	158665322	Human		name
151794486	CV1395016	deletion	NM_024996.7(GFM1):c.841-520_878del	not provided [RCV001973353]	likely pathogenic	3	158652787	158653344	Human		name
11583036	CV293586	insertion	NM_024996.7(GFM1):c.483_484insTA	Combined oxidative phosphorylation deficiency [RCV000264012]	likely benign	3	158691950	158691951	Human	1	name
127280528	CV1070491	single nucleotide variant	NM_024996.7(GFM1):c.21A>G (p.Ala7=)	not provided [RCV001409823]	likely benign	3	158644655	158644655	Human		name
152147162	CV1615578	single nucleotide variant	NM_024996.7(GFM1):c.12G>C (p.Leu4=)	not provided [RCV002101653]	likely benign	3	158644646	158644646	Human		name
405014106	CV2930196	single nucleotide variant	NM_024996.7(GFM1):c.27C>T (p.Val9=)	not provided [RCV003576919]	likely benign	3	158644661	158644661	Human		name
11585639	CV293119	single nucleotide variant	NM_024996.7(GFM1):c.18T>C (p.Ala6=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000282348]\|not provided [RCV000676466]\|not specified [RCV001795958]	benign	3	158644652	158644652	Human	1	name
405010665	CV2933620	deletion	NM_024996.7(GFM1):c.368-11_368-9del	not provided [RCV003576705]	likely benign	3	158646730	158646732	Human		name
405013707	CV2997576	single nucleotide variant	NM_024996.7(GFM1):c.18T>G (p.Ala6=)	not provided [RCV003694129]	likely benign	3	158644652	158644652	Human		name
127270508	CV1092202	single nucleotide variant	NM_024996.7(GFM1):c.54C>T (p.Pro18=)	not provided [RCV001430658]	likely benign	3	158644688	158644688	Human		name
127312215	CV1113714	single nucleotide variant	NM_024996.7(GFM1):c.39G>A (p.Gly13=)	not provided [RCV001464314]	likely benign	3	158644673	158644673	Human		name
127288250	CV1134608	single nucleotide variant	NM_024996.7(GFM1):c.54C>A (p.Pro18=)	not provided [RCV001495151]	likely benign	3	158644688	158644688	Human		name
127325326	CV1134609	single nucleotide variant	NM_024996.7(GFM1):c.66C>G (p.Gly22=)	not provided [RCV001505984]	likely benign	3	158644700	158644700	Human		name
150463686	CV1276261	deletion	NM_024996.7(GFM1):c.81+281_81+283del	not provided [RCV001710206]	benign	3	158644981	158644983	Human		name
150509976	CV1286319	deletion	NM_024996.7(GFM1):c.81+282_81+283del	not provided [RCV001720847]	benign	3	158644981	158644982	Human		name
152083308	CV1525306	single nucleotide variant	NM_024996.7(GFM1):c.36G>C (p.Leu12=)	not provided [RCV002131106]	likely benign	3	158644670	158644670	Human		name
152055624	CV1610162	single nucleotide variant	NM_024996.7(GFM1):c.87T>C (p.Asn29=)	not provided [RCV002167393]	likely benign	3	158645634	158645634	Human		name
10409699	CV210949	single nucleotide variant	NM_024996.7(GFM1):c.3G>A (p.Met1Ile)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001273487]\|not provided [RCV000196656]	pathogenic	3	158644637	158644637	Human	1	name
156209039	CV2165185	deletion	NM_024996.7(GFM1):c.1221+8_1221+9del	not provided [RCV003024735]	likely benign	3	158659066	158659067	Human		name
405001661	CV3015295	deletion	NM_024996.7(GFM1):c.1602-8_1602-7del	not provided [RCV003693237]	likely benign	3	158681986	158681987	Human		name
405187610	CV3124411	deletion	NM_024996.7(GFM1):c.368-14_368-12del	not provided [RCV003820610]	likely benign	3	158646728	158646730	Human		name
405112660	CV3133553	single nucleotide variant	NM_024996.7(GFM1):c.30G>A (p.Ala10=)	not provided [RCV003836346]	likely benign	3	158644664	158644664	Human		name
405294173	CV3203541	deletion	NM_024996.7(GFM1):c.1910-9_1910-8del	GFM1-related disorder [RCV003934065]	likely benign	3	158690142	158690143	Human		name , trait , alternate_id
597915158	CV3740693	single nucleotide variant	NM_024996.7(GFM1):c.61C>T (p.Leu21=)	not provided [RCV005074030]	likely benign	3	158644695	158644695	Human		name
597869470	CV3764624	single nucleotide variant	NM_024996.7(GFM1):c.60C>T (p.Ser20=)	not provided [RCV005107423]	likely benign	3	158644694	158644694	Human		name
15190225	CV763713	single nucleotide variant	NM_024996.7(GFM1):c.51C>T (p.Ala17=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272457]\|not provided [RCV000932460]	likely benign\|uncertain significance	3	158644685	158644685	Human	1	name
38492502	CV940740	deletion	NM_024996.7(GFM1):c.1765-2_1765-1del	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001833935]\|not provided [RCV001223407]	pathogenic	3	158684522	158684523	Human	1	name
127280879	CV1070493	single nucleotide variant	NM_024996.7(GFM1):c.102A>C (p.Arg34=)	not provided [RCV001410097]	likely benign	3	158645649	158645649	Human		name
127251355	CV1070494	single nucleotide variant	NM_024996.7(GFM1):c.141A>C (p.Arg47=)	not provided [RCV001417766]	likely benign	3	158645688	158645688	Human		name
127249511	CV1070495	single nucleotide variant	NM_024996.7(GFM1):c.168T>C (p.Asp56=)	not provided [RCV001417337]	likely benign	3	158645715	158645715	Human		name
127310427	CV1134610	single nucleotide variant	NM_024996.7(GFM1):c.279A>G (p.Glu93=)	not provided [RCV001481138]	likely benign	3	158646209	158646209	Human		name
152095183	CV1603883	single nucleotide variant	NM_024996.7(GFM1):c.171T>C (p.Ser57=)	GFM1-related disorder [RCV003893206]\|not provided [RCV002213263]	likely benign	3	158645718	158645718	Human	1	name , trait , alternate_id
152053745	CV1665300	single nucleotide variant	NM_024996.7(GFM1):c.186A>G (p.Leu62=)	not provided [RCV002089464]	likely benign	3	158645733	158645733	Human		name
156352891	CV1994623	single nucleotide variant	NM_024996.7(GFM1):c.153C>T (p.Ile51=)	not provided [RCV002675718]	likely benign	3	158645700	158645700	Human		name
155977104	CV2085326	single nucleotide variant	NM_024996.7(GFM1):c.291A>G (p.Gln97=)	not provided [RCV002863585]	likely benign	3	158646221	158646221	Human		name
10409468	CV210950	single nucleotide variant	NM_024996.7(GFM1):c.16G>C (p.Ala6Pro)	not provided [RCV000196171]	uncertain significance	3	158644650	158644650	Human		name
402487005	CV2865460	single nucleotide variant	NM_024996.7(GFM1):c.249T>C (p.Asp83=)	not provided [RCV003544573]	likely benign	3	158646179	158646179	Human		name
405139153	CV2970325	single nucleotide variant	NM_024996.7(GFM1):c.171T>A (p.Ser57=)	not provided [RCV003669047]	likely benign	3	158645718	158645718	Human		name
405244963	CV2972727	deletion	NM_024996.7(GFM1):c.1222-10_1222-7del	not provided [RCV003685007]	likely benign	3	158660861	158660864	Human		name
405090573	CV3044781	single nucleotide variant	NM_024996.7(GFM1):c.207C>T (p.Tyr69=)	not provided [RCV003717788]	likely benign	3	158645754	158645754	Human		name
402521482	CV3126930	single nucleotide variant	NM_024996.7(GFM1):c.213C>T (p.Gly71=)	not provided [RCV003824848]	likely benign	3	158645760	158645760	Human		name
405062190	CV3148342	single nucleotide variant	NM_024996.7(GFM1):c.183A>G (p.Thr61=)	not provided [RCV003850298]	likely benign	3	158645730	158645730	Human		name
402487382	CV3181910	single nucleotide variant	NM_024996.7(GFM1):c.204C>T (p.Tyr68=)	not provided [RCV003876579]	likely benign	3	158645751	158645751	Human		name
405261980	CV3220014	single nucleotide variant	NM_024996.7(GFM1):c.102A>G (p.Arg34=)	GFM1-related disorder [RCV003967162]\|not provided [RCV005064893]	likely benign	3	158645649	158645649	Human	1	name , trait , alternate_id
597683340	CV3720935	deletion	NM_024996.7(GFM1):c.49del (p.Ala17fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005031316]	likely pathogenic	3	158644681	158644681	Human	1	name
597874459	CV3775496	single nucleotide variant	NM_024996.7(GFM1):c.139C>A (p.Arg47=)	not provided [RCV005123226]	likely benign	3	158645686	158645686	Human		name
13788801	CV549907	single nucleotide variant	NM_024996.7(GFM1):c.193C>A (p.Arg65=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148014]\|not provided [RCV000676467]	likely benign\|uncertain significance	3	158645740	158645740	Human	1	name
14705334	CV654317	deletion	NM_024996.7(GFM1):c.54del (p.Ala19fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000826110]\|not provided [RCV002538243]	pathogenic\|likely pathogenic	3	158644684	158644684	Human	1	name
15110136	CV708673	single nucleotide variant	NM_024996.7(GFM1):c.192A>G (p.Glu64=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001832207]\|not provided [RCV000960840]	likely benign	3	158645739	158645739	Human	1	name
15130602	CV781599	single nucleotide variant	NM_024996.7(GFM1):c.294A>G (p.Arg98=)	not provided [RCV000981069]	likely benign	3	158646224	158646224	Human		name
127283800	CV1070496	single nucleotide variant	NM_024996.7(GFM1):c.324C>T (p.Tyr108=)	not provided [RCV001412023]	likely benign	3	158646254	158646254	Human		name
127275338	CV1070497	single nucleotide variant	NM_024996.7(GFM1):c.612C>T (p.Pro204=)	not provided [RCV001406692]	likely benign	3	158649080	158649080	Human		name
127231067	CV1070498	single nucleotide variant	NM_024996.7(GFM1):c.705T>C (p.Tyr235=)	not provided [RCV001395108]	likely benign	3	158652111	158652111	Human		name
127260018	CV1070499	single nucleotide variant	NM_024996.7(GFM1):c.735G>A (p.Ala245=)	not provided [RCV001419959]	likely benign	3	158652141	158652141	Human		name
127233998	CV1070500	single nucleotide variant	NM_024996.7(GFM1):c.738C>A (p.Ala246=)	not provided [RCV001414114]	likely benign	3	158652144	158652144	Human		name
127229960	CV1070501	single nucleotide variant	NM_024996.7(GFM1):c.744C>T (p.Asp248=)	not provided [RCV001412253]	likely benign	3	158652150	158652150	Human		name
127254275	CV1070503	single nucleotide variant	NM_024996.7(GFM1):c.960A>G (p.Pro320=)	not provided [RCV001418529]	likely benign	3	158653429	158653429	Human		name
127280226	CV1092203	single nucleotide variant	NM_024996.7(GFM1):c.363T>C (p.Thr121=)	not provided [RCV001446328]	likely benign	3	158646293	158646293	Human		name
127275822	CV1092204	single nucleotide variant	NM_024996.7(GFM1):c.465C>T (p.Thr155=)	not provided [RCV001443507]	likely benign	3	158646840	158646840	Human		name
127270930	CV1092205	single nucleotide variant	NM_024996.7(GFM1):c.540C>T (p.Gly180=)	not provided [RCV001441608]	likely benign	3	158646915	158646915	Human		name
127239238	CV1092207	single nucleotide variant	NM_024996.7(GFM1):c.996G>A (p.Glu332=)	not provided [RCV001433935]	likely benign	3	158653465	158653465	Human		name
127332937	CV1113716	single nucleotide variant	NM_024996.7(GFM1):c.504G>A (p.Pro168=)	not provided [RCV001472584]	likely benign	3	158646879	158646879	Human		name
127305840	CV1113717	single nucleotide variant	NM_024996.7(GFM1):c.552C>T (p.Ala184=)	not provided [RCV001455339]	likely benign	3	158646927	158646927	Human		name
127310438	CV1113720	single nucleotide variant	NM_024996.7(GFM1):c.580C>T (p.Leu194=)	not provided [RCV001456613]	likely benign	3	158649048	158649048	Human		name
127292271	CV1113721	single nucleotide variant	NM_024996.7(GFM1):c.687T>C (p.Phe229=)	not provided [RCV001451732]	likely benign	3	158649155	158649155	Human		name
127338215	CV1134611	single nucleotide variant	NM_024996.7(GFM1):c.426C>T (p.Val142=)	not provided [RCV001493692]	likely benign	3	158646801	158646801	Human		name
127328611	CV1134612	single nucleotide variant	NM_024996.7(GFM1):c.792T>C (p.Leu264=)	not provided [RCV001486867]	likely benign	3	158652198	158652198	Human		name
127313833	CV1134613	single nucleotide variant	NM_024996.7(GFM1):c.861T>C (p.Thr287=)	not provided [RCV001482082]	likely benign	3	158653330	158653330	Human		name
127309038	CV1134614	single nucleotide variant	NM_024996.7(GFM1):c.873A>G (p.Ser291=)	not provided [RCV001480744]	likely benign	3	158653342	158653342	Human		name
127314949	CV1134615	single nucleotide variant	NM_024996.7(GFM1):c.928T>C (p.Leu310=)	not provided [RCV001502597]	likely benign	3	158653397	158653397	Human		name
150470014	CV1209245	deletion	NM_024996.7(GFM1):c.2125-32_2125-30del	not provided [RCV001588356]	likely benign	3	158691302	158691304	Human		name
151757307	CV1340376	single nucleotide variant	NM_024996.7(GFM1):c.67T>A (p.Trp23Arg)	not provided [RCV001913584]	uncertain significance	3	158644701	158644701	Human		name
151716491	CV1345995	single nucleotide variant	NM_024996.7(GFM1):c.97T>C (p.Cys33Arg)	not provided [RCV001965306]	uncertain significance	3	158645644	158645644	Human		name
151884110	CV1366616	single nucleotide variant	NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464295]\|not provided [RCV001941657]	pathogenic\|likely pathogenic	3	158644703	158644703	Human	1	name
151824690	CV1373321	duplication	NM_024996.7(GFM1):c.136dup (p.Ile46fs)	not provided [RCV001934484]	pathogenic	3	158645677	158645678	Human		name
151788222	CV1419759	single nucleotide variant	NM_024996.7(GFM1):c.62T>C (p.Leu21Pro)	not provided [RCV001951780]	uncertain significance	3	158644696	158644696	Human		name
152082627	CV1525189	single nucleotide variant	NM_024996.7(GFM1):c.720T>A (p.Ala240=)	not provided [RCV002131016]	likely benign	3	158652126	158652126	Human		name
152064229	CV1535763	single nucleotide variant	NM_024996.7(GFM1):c.420T>C (p.Gly140=)	not provided [RCV002168403]	likely benign	3	158646795	158646795	Human		name
152161471	CV1555403	single nucleotide variant	NM_024996.7(GFM1):c.757C>T (p.Leu253=)	not provided [RCV002103878]	likely benign	3	158652163	158652163	Human		name
152061574	CV1559360	single nucleotide variant	NM_024996.7(GFM1):c.930A>G (p.Leu310=)	not provided [RCV002168064]	likely benign	3	158653399	158653399	Human		name
152106797	CV1560147	single nucleotide variant	NM_024996.7(GFM1):c.762T>A (p.Ile254=)	not provided [RCV002133956]	likely benign	3	158652168	158652168	Human		name
152094327	CV1565744	single nucleotide variant	NM_024996.7(GFM1):c.406A>C (p.Arg136=)	not provided [RCV002150999]	likely benign	3	158646781	158646781	Human		name
152154411	CV1579477	single nucleotide variant	NM_024996.7(GFM1):c.699T>C (p.Val233=)	not provided [RCV002158659]	likely benign	3	158652105	158652105	Human		name
152127789	CV1583671	single nucleotide variant	NM_024996.7(GFM1):c.981T>A (p.Ala327=)	not provided [RCV002198916]	likely benign	3	158653450	158653450	Human		name
152142141	CV1586492	single nucleotide variant	NM_024996.7(GFM1):c.732G>A (p.Ala244=)	not provided [RCV002178196]	likely benign	3	158652138	158652138	Human		name
152105600	CV1602709	single nucleotide variant	NM_024996.7(GFM1):c.471T>G (p.Thr157=)	not provided [RCV002196107]	likely benign	3	158646846	158646846	Human		name
152151914	CV1626668	single nucleotide variant	NM_024996.7(GFM1):c.933T>C (p.Asp311=)	not provided [RCV002202101]	likely benign	3	158653402	158653402	Human		name
152113400	CV1639308	single nucleotide variant	NM_024996.7(GFM1):c.724T>C (p.Leu242=)	not provided [RCV002197082]	likely benign	3	158652130	158652130	Human		name
156353841	CV1880016	single nucleotide variant	NM_024996.7(GFM1):c.90G>T (p.Trp30Cys)	Inborn genetic diseases [RCV004632166]\|not provided [RCV003065079]	likely benign\|uncertain significance	3	158645637	158645637	Human	1	name
156405826	CV1884645	single nucleotide variant	NM_024996.7(GFM1):c.552C>G (p.Ala184=)	not provided [RCV003070146]	likely benign	3	158646927	158646927	Human		name
156192070	CV1893021	single nucleotide variant	NM_024996.7(GFM1):c.441T>A (p.Ala147=)	not provided [RCV003083905]	likely benign	3	158646816	158646816	Human		name
156127630	CV1927313	deletion	NM_024996.7(GFM1):c.2125-22_2125-20del	not provided [RCV002640582]	benign	3	158691314	158691316	Human		name
156350835	CV1978356	single nucleotide variant	NM_024996.7(GFM1):c.360T>C (p.Asp120=)	not provided [RCV002601813]	likely benign	3	158646290	158646290	Human		name
156388108	CV1989854	single nucleotide variant	NM_024996.7(GFM1):c.666C>T (p.Ala222=)	not provided [RCV002604437]	likely benign	3	158649134	158649134	Human		name
155904484	CV2031337	single nucleotide variant	NM_024996.7(GFM1):c.318C>T (p.Ala106=)	not provided [RCV002726384]	likely benign	3	158646248	158646248	Human		name
156129913	CV2036510	single nucleotide variant	NM_024996.7(GFM1):c.894A>G (p.Gly298=)	not provided [RCV002786128]	likely benign	3	158653363	158653363	Human		name
156043021	CV2044185	single nucleotide variant	NM_024996.7(GFM1):c.435C>T (p.Leu145=)	not provided [RCV002781563]	likely benign	3	158646810	158646810	Human		name
155908446	CV2077589	single nucleotide variant	NM_024996.7(GFM1):c.642T>C (p.Ile214=)	not provided [RCV002858305]	likely benign	3	158649110	158649110	Human		name
10409151	CV210951	single nucleotide variant	NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000398210]\|not provided [RCV000915754]\|not specified [RCV000195533]	benign\|likely benign	3	158644711	158644711	Human	1	name
10411528	CV210954	deletion	NM_024996.7(GFM1):c.273del (p.Met92fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002500612]\|not provided [RCV000200452]	pathogenic\|likely pathogenic	3	158646202	158646202	Human	1	name
10409258	CV210961	single nucleotide variant	NM_024996.7(GFM1):c.960A>C (p.Pro320=)	GFM1-related disorder [RCV004748652]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000316489]\|not provided [RCV000910628]\|not specified [RCV000195750]	benign\|likely benign\|uncertain significance	3	158653429	158653429	Human	1	name , trait , alternate_id
156248170	CV2119752	single nucleotide variant	NM_024996.7(GFM1):c.990T>C (p.Asn330=)	not provided [RCV002959109]	likely benign	3	158653459	158653459	Human		name
156314565	CV2120256	single nucleotide variant	NM_024996.7(GFM1):c.657G>A (p.Glu219=)	not provided [RCV002962820]	likely benign	3	158649125	158649125	Human		name
156286743	CV2134196	single nucleotide variant	NM_024996.7(GFM1):c.684C>T (p.Asp228=)	not provided [RCV003009801]	likely benign	3	158649152	158649152	Human		name
155995074	CV2156289	single nucleotide variant	NM_024996.7(GFM1):c.459C>T (p.Cys153=)	not provided [RCV002996750]	likely benign	3	158646834	158646834	Human		name
156005544	CV2165098	single nucleotide variant	NM_024996.7(GFM1):c.975C>T (p.Asn325=)	not provided [RCV003034976]	likely benign	3	158653444	158653444	Human		name
156270086	CV2167996	single nucleotide variant	NM_024996.7(GFM1):c.807G>C (p.Leu269=)	not provided [RCV003026956]	likely benign	3	158652213	158652213	Human		name
156169995	CV2169851	single nucleotide variant	NM_024996.7(GFM1):c.750G>T (p.Arg250=)	not provided [RCV003023483]	likely benign	3	158652156	158652156	Human		name
243050218	CV2419587	single nucleotide variant	NM_024996.7(GFM1):c.72G>C (p.Gln24His)	not provided [RCV003156519]	uncertain significance	3	158644706	158644706	Human		name
401799022	CV2741598	single nucleotide variant	NM_024996.7(GFM1):c.28G>T (p.Ala10Ser)	not provided [RCV003323006]	uncertain significance	3	158644662	158644662	Human		name
401922999	CV2825040	single nucleotide variant	NM_024996.7(GFM1):c.88T>G (p.Trp30Gly)	not provided [RCV003434784]	likely benign	3	158645635	158645635	Human		name
401941378	CV2836014	deletion	NM_024996.7(GFM1):c.136del (p.Ile46fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461695]	likely pathogenic	3	158645678	158645678	Human	1	name
401961533	CV2843877	single nucleotide variant	NM_024996.7(GFM1):c.53C>T (p.Pro18Leu)	not provided [RCV003481716]	uncertain significance	3	158644687	158644687	Human		name
402485868	CV2855265	single nucleotide variant	NM_024996.7(GFM1):c.612C>G (p.Pro204=)	not provided [RCV003544403]	likely benign	3	158649080	158649080	Human		name
402474094	CV2858049	deletion	NM_024996.7(GFM1):c.2071-14_2071-13del	not provided [RCV003543076]	likely benign	3	158691124	158691125	Human		name
402490645	CV2866717	single nucleotide variant	NM_024996.7(GFM1):c.402C>G (p.Ala134=)	not provided [RCV003572978]	likely benign	3	158646777	158646777	Human		name
11597009	CV290039	single nucleotide variant	NM_024996.7(GFM1):c.702A>G (p.Arg234=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000388686]	uncertain significance	3	158652108	158652108	Human	1	name
11585320	CV290042	single nucleotide variant	NM_024996.7(GFM1):c.897C>T (p.Ser299=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000280136]\|not provided [RCV001453939]	likely benign\|uncertain significance	3	158653366	158653366	Human	1	name
405176577	CV2915609	single nucleotide variant	NM_024996.7(GFM1):c.774C>T (p.Ala258=)	not provided [RCV003563516]	likely benign	3	158652180	158652180	Human		name
405064180	CV2927283	single nucleotide variant	NM_024996.7(GFM1):c.516T>C (p.Phe172=)	not provided [RCV003580672]	likely benign	3	158646891	158646891	Human		name
405014232	CV2930354	single nucleotide variant	NM_024996.7(GFM1):c.303T>C (p.Thr101=)	not provided [RCV003576999]	likely benign	3	158646233	158646233	Human		name
402469139	CV2930913	single nucleotide variant	NM_024996.7(GFM1):c.702A>C (p.Arg234=)	not provided [RCV003570064]	likely benign	3	158652108	158652108	Human		name
11592303	CV293120	single nucleotide variant	NM_024996.7(GFM1):c.56C>T (p.Ala19Val)	GFM1-related disorder [RCV003950210]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000337390]\|not provided [RCV000943185]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158644690	158644690	Human	1	name , trait , alternate_id
11595909	CV293532	single nucleotide variant	NM_024996.7(GFM1):c.987C>A (p.Leu329=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000376033]\|not provided [RCV000933080]	likely benign\|uncertain significance	3	158653456	158653456	Human	1	name
405161405	CV2951337	single nucleotide variant	NM_024996.7(GFM1):c.558C>T (p.Ala186=)	not provided [RCV003670755]	likely benign	3	158646933	158646933	Human		name
404984023	CV2989525	single nucleotide variant	NM_024996.7(GFM1):c.850C>A (p.Arg284=)	not provided [RCV003691509]	likely benign	3	158653319	158653319	Human		name
402480667	CV2991065	single nucleotide variant	NM_024996.7(GFM1):c.582A>C (p.Leu194=)	not provided [RCV003686516]	likely benign	3	158649050	158649050	Human		name
405118381	CV2997440	single nucleotide variant	NM_024996.7(GFM1):c.402C>T (p.Ala134=)	not provided [RCV003723608]	likely benign	3	158646777	158646777	Human		name
402519205	CV3002368	single nucleotide variant	NM_024996.7(GFM1):c.576T>G (p.Ser192=)	not provided [RCV003690161]	likely benign	3	158649044	158649044	Human		name
405129969	CV3010861	single nucleotide variant	NM_024996.7(GFM1):c.831T>C (p.Ser277=)	not provided [RCV003701586]	likely benign	3	158652237	158652237	Human		name
402499718	CV3012966	single nucleotide variant	NM_024996.7(GFM1):c.885A>G (p.Val295=)	not provided [RCV003688366]	likely benign	3	158653354	158653354	Human		name
405039725	CV3013525	single nucleotide variant	NM_024996.7(GFM1):c.747C>T (p.His249=)	not provided [RCV003696162]	likely benign	3	158652153	158652153	Human		name
405003705	CV3016382	single nucleotide variant	NM_024996.7(GFM1):c.753G>A (p.Gln251=)	not provided [RCV003693413]	likely benign	3	158652159	158652159	Human		name
405090869	CV3021780	single nucleotide variant	NM_024996.7(GFM1):c.789G>A (p.Gln263=)	not provided [RCV003699725]	likely benign	3	158652195	158652195	Human		name
405052874	CV3022252	single nucleotide variant	NM_024996.7(GFM1):c.336A>G (p.Lys112=)	not provided [RCV003697130]	likely benign	3	158646266	158646266	Human		name
405141748	CV3026293	single nucleotide variant	NM_024996.7(GFM1):c.384A>G (p.Thr128=)	not provided [RCV003702518]	likely benign	3	158646759	158646759	Human		name
402510499	CV3042498	deletion	NM_024996.7(GFM1):c.1910-22_1910-20del	not provided [RCV003715625]	likely benign	3	158690141	158690143	Human		name
405237000	CV3080671	deletion	NM_024996.7(GFM1):c.1222-14_1222-11del	not provided [RCV003736073]	likely benign	3	158660858	158660861	Human		name
405237031	CV3080691	microsatellite	NM_024996.7(GFM1):c.2071-16_2071-14del	not provided [RCV003736079]	likely benign	3	158691120	158691122	Human		name
405084546	CV3121960	deletion	NM_024996.7(GFM1):c.1518+16_1518+19del	not provided [RCV003810715]	likely benign	3	158665487	158665490	Human		name
405195176	CV3128657	deletion	NM_024996.7(GFM1):c.2125-28_2125-17del	not provided [RCV003821395]	likely benign	3	158691308	158691319	Human		name
405107406	CV3136205	single nucleotide variant	NM_024996.7(GFM1):c.363T>A (p.Thr121=)	not provided [RCV003835551]	likely benign	3	158646293	158646293	Human		name
405083341	CV3137577	single nucleotide variant	NM_024996.7(GFM1):c.945A>G (p.Glu315=)	not provided [RCV003834286]	likely benign	3	158653414	158653414	Human		name
405212650	CV3169789	single nucleotide variant	NM_024996.7(GFM1):c.948C>T (p.Tyr316=)	not provided [RCV003862388]	likely benign	3	158653417	158653417	Human		name
402477788	CV3170173	single nucleotide variant	NM_024996.7(GFM1):c.900C>T (p.Ala300=)	not provided [RCV003875561]	likely benign	3	158653369	158653369	Human		name
405255287	CV3176122	single nucleotide variant	NM_024996.7(GFM1):c.906G>A (p.Lys302=)	not provided [RCV003872206]	likely benign	3	158653375	158653375	Human		name
407512862	CV3433020	single nucleotide variant	NM_024996.7(GFM1):c.73A>G (p.Arg25Gly)	Inborn genetic diseases [RCV004626937]	likely benign	3	158644707	158644707	Human	1	name
12842583	CV367289	single nucleotide variant	NM_024996.7(GFM1):c.597G>A (p.Ala199=)	not provided [RCV001439230]\|not specified [RCV000434679]	likely benign	3	158649065	158649065	Human		name
597892175	CV3763104	single nucleotide variant	NM_024996.7(GFM1):c.696T>C (p.Ile232=)	not provided [RCV005110876]	likely benign	3	158652102	158652102	Human		name
15125839	CV763714	single nucleotide variant	NM_024996.7(GFM1):c.807G>A (p.Leu269=)	not provided [RCV000941271]	likely benign	3	158652213	158652213	Human		name
15183202	CV763715	single nucleotide variant	NM_024996.7(GFM1):c.837A>G (p.Leu279=)	not provided [RCV000930538]	likely benign	3	158652243	158652243	Human		name
15144051	CV781600	single nucleotide variant	NM_024996.7(GFM1):c.498C>T (p.Asn166=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001836054]\|not provided [RCV000983429]	likely benign	3	158646873	158646873	Human	1	name
15145800	CV781601	single nucleotide variant	NM_024996.7(GFM1):c.843A>G (p.Leu281=)	not provided [RCV000983730]	likely benign	3	158653312	158653312	Human		name
40906634	CV977819	single nucleotide variant	NM_024996.7(GFM1):c.825G>A (p.Ser275=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280046]	uncertain significance	3	158652231	158652231	Human	1	name
127254429	CV1070504	single nucleotide variant	NM_024996.7(GFM1):c.1143T>C (p.Gly381=)	not provided [RCV001400802]	likely benign	3	158658981	158658981	Human		name
127264911	CV1070505	single nucleotide variant	NM_024996.7(GFM1):c.1152C>A (p.Ile384=)	not provided [RCV001403439]	likely benign	3	158658990	158658990	Human		name
127242492	CV1070506	single nucleotide variant	NM_024996.7(GFM1):c.1263T>C (p.Phe421=)	not provided [RCV001393349]	likely benign	3	158660915	158660915	Human		name
127262679	CV1070507	single nucleotide variant	NM_024996.7(GFM1):c.1299C>T (p.Asp433=)	not provided [RCV001402707]	likely benign	3	158660951	158660951	Human		name
127250661	CV1070508	single nucleotide variant	NM_024996.7(GFM1):c.1422A>G (p.Thr474=)	not provided [RCV001417630]	likely benign	3	158665378	158665378	Human		name
127248350	CV1070509	single nucleotide variant	NM_024996.7(GFM1):c.1473A>G (p.Thr491=)	not provided [RCV001399353]	likely benign	3	158665429	158665429	Human		name
127255344	CV1070511	single nucleotide variant	NM_024996.7(GFM1):c.1629A>T (p.Ser543=)	not provided [RCV001418724]	likely benign	3	158682022	158682022	Human		name
127250642	CV1070512	single nucleotide variant	NM_024996.7(GFM1):c.1665C>A (p.Val555=)	not provided [RCV001417627]	likely benign	3	158682058	158682058	Human		name
127233179	CV1070513	single nucleotide variant	NM_024996.7(GFM1):c.2055T>C (p.Phe685=)	not provided [RCV001413778]	likely benign	3	158690308	158690308	Human		name
127268035	CV1070514	single nucleotide variant	NM_024996.7(GFM1):c.2139C>T (p.Tyr713=)	not provided [RCV001404300]	likely benign	3	158691350	158691350	Human		name
127256669	CV1092208	single nucleotide variant	NM_024996.7(GFM1):c.1005A>G (p.Ser335=)	not provided [RCV001426857]	likely benign	3	158654553	158654553	Human		name
127275784	CV1092209	single nucleotide variant	NM_024996.7(GFM1):c.1074T>C (p.Phe358=)	not provided [RCV001432518]	likely benign	3	158654622	158654622	Human		name
127268272	CV1092210	single nucleotide variant	NM_024996.7(GFM1):c.1161A>G (p.Thr387=)	not provided [RCV001429908]	likely benign	3	158658999	158658999	Human		name
127273167	CV1092212	single nucleotide variant	NM_024996.7(GFM1):c.1329A>G (p.Ser443=)	not provided [RCV001431564]	likely benign	3	158662633	158662633	Human		name
127261068	CV1092214	single nucleotide variant	NM_024996.7(GFM1):c.1434C>T (p.Pro478=)	not provided [RCV001428010]	likely benign	3	158665390	158665390	Human		name
127276110	CV1092215	single nucleotide variant	NM_024996.7(GFM1):c.1857T>A (p.Val619=)	not provided [RCV001432628]	likely benign	3	158684616	158684616	Human		name
127278591	CV1092216	single nucleotide variant	NM_024996.7(GFM1):c.2166A>G (p.Pro722=)	not provided [RCV001445163]	likely benign	3	158691377	158691377	Human		name
127323488	CV1113723	single nucleotide variant	NM_024996.7(GFM1):c.1179A>T (p.Val393=)	not provided [RCV001467891]	likely benign	3	158659017	158659017	Human		name
127299397	CV1113724	single nucleotide variant	NM_024996.7(GFM1):c.1188A>G (p.Gln396=)	not provided [RCV001453582]	likely benign	3	158659026	158659026	Human		name
127309375	CV1113725	single nucleotide variant	NM_024996.7(GFM1):c.1311C>T (p.Ser437=)	not provided [RCV001463594]	likely benign	3	158660963	158660963	Human		name
127329786	CV1113726	single nucleotide variant	NM_024996.7(GFM1):c.1536T>C (p.Tyr512=)	not provided [RCV001470423]	likely benign	3	158666321	158666321	Human		name
127336667	CV1113727	single nucleotide variant	NM_024996.7(GFM1):c.1782C>T (p.Cys594=)	GFM1-related disorder [RCV003965956]\|not provided [RCV001475138]	likely benign	3	158684541	158684541	Human	1	name , trait , alternate_id
127316851	CV1113728	single nucleotide variant	NM_024996.7(GFM1):c.1818G>A (p.Gly606=)	not provided [RCV001465651]	likely benign	3	158684577	158684577	Human		name
127288244	CV1113729	single nucleotide variant	NM_024996.7(GFM1):c.1851C>T (p.His617=)	GFM1-related disorder [RCV003973309]\|not provided [RCV001450412]	likely benign	3	158684610	158684610	Human	1	name , trait , alternate_id
127324381	CV1113730	single nucleotide variant	NM_024996.7(GFM1):c.1881C>T (p.Ile627=)	not provided [RCV001468192]	likely benign	3	158684640	158684640	Human		name
127327341	CV1113733	single nucleotide variant	NM_024996.7(GFM1):c.2170T>C (p.Leu724=)	not provided [RCV001469047]	likely benign	3	158691381	158691381	Human		name
127331649	CV1113734	single nucleotide variant	NM_024996.7(GFM1):c.2178C>T (p.Ser726=)	not provided [RCV001471711]	likely benign	3	158691389	158691389	Human		name
127331778	CV1134616	single nucleotide variant	NM_024996.7(GFM1):c.1035C>T (p.Ser345=)	not provided [RCV001489057]	likely benign	3	158654583	158654583	Human		name
127317373	CV1134617	single nucleotide variant	NM_024996.7(GFM1):c.1101A>G (p.Gln367=)	not provided [RCV001483140]	likely benign	3	158658939	158658939	Human		name
127296402	CV1134618	single nucleotide variant	NM_024996.7(GFM1):c.1290A>G (p.Thr430=)	not provided [RCV001497458]	likely benign	3	158660942	158660942	Human		name
127332383	CV1134619	single nucleotide variant	NM_024996.7(GFM1):c.1326G>A (p.Glu442=)	not provided [RCV001489456]	likely benign	3	158662630	158662630	Human		name
127326172	CV1134620	single nucleotide variant	NM_024996.7(GFM1):c.1350C>T (p.Val450=)	not provided [RCV001485969]	likely benign	3	158662654	158662654	Human		name
127327129	CV1134621	single nucleotide variant	NM_024996.7(GFM1):c.1371T>C (p.Pro457=)	not provided [RCV001486231]	likely benign	3	158662675	158662675	Human		name
127306383	CV1134622	single nucleotide variant	NM_024996.7(GFM1):c.1383C>T (p.Asn461=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001563842]\|not provided [RCV001480040]	likely benign\|uncertain significance	3	158665339	158665339	Human	1	name
127291895	CV1134623	single nucleotide variant	NM_024996.7(GFM1):c.1686G>A (p.Glu562=)	not provided [RCV001496388]	likely benign	3	158682079	158682079	Human		name
127328984	CV1134624	single nucleotide variant	NM_024996.7(GFM1):c.1893A>G (p.Glu631=)	not provided [RCV001487128]	likely benign	3	158684652	158684652	Human		name
127306797	CV1134625	single nucleotide variant	NM_024996.7(GFM1):c.2061G>C (p.Leu687=)	not provided [RCV001480179]	likely benign	3	158690314	158690314	Human		name
150421419	CV1193276	single nucleotide variant	NM_024996.7(GFM1):c.1065C>T (p.Gly355=)	not provided [RCV001570541]	likely benign	3	158654613	158654613	Human		name
150451070	CV1200416	deletion	NM_024996.7(GFM1):c.748del (p.Arg250fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001580712]	likely pathogenic	3	158652153	158652153	Human	1	name
150548796	CV1294519	single nucleotide variant	NM_024996.7(GFM1):c.265A>G (p.Met89Val)	not provided [RCV001752011]	uncertain significance	3	158646195	158646195	Human		name
151881980	CV1364015	deletion	NM_024996.7(GFM1):c.612del (p.Met205fs)	not provided [RCV001999737]	pathogenic	3	158649078	158649078	Human		name
151768446	CV1367438	deletion	NM_024996.7(GFM1):c.890del (p.Leu297fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005038385]\|not provided [RCV001863844]	pathogenic\|likely pathogenic	3	158653355	158653355	Human	1	name
151782720	CV1383481	deletion	NM_024996.7(GFM1):c.649del (p.Ile218fs)	not provided [RCV001865113]	pathogenic	3	158649117	158649117	Human		name
8691205	CV141165	single nucleotide variant	NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000361226]\|not provided [RCV000964843]\|not specified [RCV000125223]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158645674	158645674	Human	1	name
151884148	CV1428547	deletion	NM_024996.7(GFM1):c.769del (p.Val257fs)	not provided [RCV002000207]	pathogenic	3	158652175	158652175	Human		name
152141653	CV1532966	single nucleotide variant	NM_024996.7(GFM1):c.2073C>T (p.Val691=)	not provided [RCV002156850]	likely benign	3	158691141	158691141	Human		name
152174935	CV1536198	single nucleotide variant	NM_024996.7(GFM1):c.1140G>A (p.Lys380=)	not provided [RCV002163318]	likely benign	3	158658978	158658978	Human		name
152129379	CV1549263	single nucleotide variant	NM_024996.7(GFM1):c.2079A>G (p.Leu693=)	not provided [RCV002099277]	likely benign	3	158691147	158691147	Human		name
152084297	CV1554876	single nucleotide variant	NM_024996.7(GFM1):c.1168A>C (p.Arg390=)	not provided [RCV002211835]	likely benign	3	158659006	158659006	Human		name
152106758	CV1560142	single nucleotide variant	NM_024996.7(GFM1):c.1584C>G (p.Thr528=)	not provided [RCV002133951]	likely benign	3	158666369	158666369	Human		name
152089283	CV1563074	single nucleotide variant	NM_024996.7(GFM1):c.1078C>T (p.Leu360=)	not provided [RCV002113849]	likely benign	3	158654626	158654626	Human		name
152151020	CV1567585	single nucleotide variant	NM_024996.7(GFM1):c.1707T>C (p.Phe569=)	not provided [RCV002158193]	likely benign	3	158682100	158682100	Human		name
152157224	CV1586133	single nucleotide variant	NM_024996.7(GFM1):c.1935T>A (p.Ile645=)	not provided [RCV002140307]	likely benign	3	158690188	158690188	Human		name
152156416	CV1589577	single nucleotide variant	NM_024996.7(GFM1):c.1917A>C (p.Ala639=)	not provided [RCV002122497]	likely benign	3	158690170	158690170	Human		name
152163035	CV1600698	single nucleotide variant	NM_024996.7(GFM1):c.2160T>C (p.Tyr720=)	not provided [RCV002141255]	likely benign	3	158691371	158691371	Human		name
152076745	CV1604582	single nucleotide variant	NM_024996.7(GFM1):c.2121A>C (p.Thr707=)	not provided [RCV002092324]	likely benign	3	158691189	158691189	Human		name
152076664	CV1606964	single nucleotide variant	NM_024996.7(GFM1):c.2151T>C (p.Tyr717=)	not provided [RCV002130312]	likely benign	3	158691362	158691362	Human		name
152165814	CV1611451	single nucleotide variant	NM_024996.7(GFM1):c.2040A>G (p.Gly680=)	not provided [RCV002141793]	likely benign	3	158690293	158690293	Human		name
152122698	CV1613590	single nucleotide variant	NM_024996.7(GFM1):c.1524G>A (p.Leu508=)	not provided [RCV002081778]	likely benign	3	158666309	158666309	Human		name
152148078	CV1623819	single nucleotide variant	NM_024996.7(GFM1):c.2058A>G (p.Thr686=)	not provided [RCV002157741]	likely benign	3	158690311	158690311	Human		name
152136054	CV1634554	single nucleotide variant	NM_024996.7(GFM1):c.1998A>T (p.Ala666=)	not provided [RCV002218731]	likely benign	3	158690251	158690251	Human		name
152074650	CV1638263	single nucleotide variant	NM_024996.7(GFM1):c.1617T>C (p.His539=)	not provided [RCV002192250]	likely benign	3	158682010	158682010	Human		name
152157689	CV1650903	single nucleotide variant	NM_024996.7(GFM1):c.2226T>C (p.Leu742=)	not provided [RCV002140380]	likely benign	3	158691437	158691437	Human		name
152107534	CV1657330	single nucleotide variant	NM_024996.7(GFM1):c.1872C>A (p.Ile624=)	not provided [RCV002215019]	likely benign\|conflicting interpretations of pathogenicity	3	158684631	158684631	Human		name
153302302	CV1688161	single nucleotide variant	NM_024996.7(GFM1):c.153C>G (p.Ile51Met)	not provided [RCV002265387]	uncertain significance	3	158645700	158645700	Human		name
155641867	CV1707163	single nucleotide variant	NM_024996.7(GFM1):c.228G>T (p.Met76Ile)	not provided [RCV002288093]	uncertain significance	3	158645775	158645775	Human		name
156384858	CV1874772	single nucleotide variant	NM_024996.7(GFM1):c.1821C>A (p.Leu607=)	not provided [RCV003050777]	likely benign	3	158684580	158684580	Human		name
156060711	CV1876323	single nucleotide variant	NM_024996.7(GFM1):c.1236A>G (p.Val412=)	not provided [RCV003053332]	likely benign	3	158660888	158660888	Human		name
156223623	CV1899978	single nucleotide variant	NM_024996.7(GFM1):c.2184A>G (p.Gln728=)	not provided [RCV003085092]	likely benign	3	158691395	158691395	Human		name
156211740	CV1902475	single nucleotide variant	NM_024996.7(GFM1):c.185T>G (p.Leu62Ter)	not provided [RCV003084624]	pathogenic	3	158645732	158645732	Human		name
156414484	CV1912367	single nucleotide variant	NM_024996.7(GFM1):c.1056A>G (p.Pro352=)	not provided [RCV002588636]	likely benign	3	158654604	158654604	Human		name
8596315	CV19200	single nucleotide variant	NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000004378]\|not provided [RCV001207728]	pathogenic	3	158645686	158645686	Human	1	name
156449670	CV1941934	single nucleotide variant	NM_024996.7(GFM1):c.2034A>G (p.Gln678=)	not provided [RCV003121796]	likely benign	3	158690287	158690287	Human		name
156264744	CV1993853	single nucleotide variant	NM_024996.7(GFM1):c.2100C>T (p.Ser700=)	not provided [RCV002646335]	likely benign	3	158691168	158691168	Human		name
156390293	CV1998694	duplication	NM_024996.7(GFM1):c.817dup (p.Ile273fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464582]\|not provided [RCV002680697]	pathogenic	3	158652217	158652218	Human	1	name
156229802	CV2043420	single nucleotide variant	NM_024996.7(GFM1):c.1335T>C (p.His445=)	not provided [RCV002805270]	likely benign	3	158662639	158662639	Human		name
156037502	CV2052596	single nucleotide variant	NM_024996.7(GFM1):c.1080G>A (p.Leu360=)	not provided [RCV002796305]	likely benign	3	158654628	158654628	Human		name
156052916	CV2064652	single nucleotide variant	NM_024996.7(GFM1):c.2082T>C (p.Asn694=)	not provided [RCV002846498]	likely benign	3	158691150	158691150	Human		name
155981882	CV2070159	single nucleotide variant	NM_024996.7(GFM1):c.1305C>A (p.Ala435=)	not provided [RCV002842561]	likely benign	3	158660957	158660957	Human		name
155972086	CV2078036	single nucleotide variant	NM_024996.7(GFM1):c.2022A>T (p.Val674=)	not provided [RCV002863365]	likely benign	3	158690275	158690275	Human		name
156022974	CV2079173	single nucleotide variant	NM_024996.7(GFM1):c.2142A>C (p.Thr714=)	not provided [RCV002885045]	likely benign	3	158691353	158691353	Human		name
155906590	CV2080384	single nucleotide variant	NM_024996.7(GFM1):c.1740G>A (p.Lys580=)	not provided [RCV002858191]	likely benign	3	158682133	158682133	Human		name
156321696	CV2101066	single nucleotide variant	NM_024996.7(GFM1):c.1350C>G (p.Val450=)	not provided [RCV002899339]	likely benign	3	158662654	158662654	Human		name
10410175	CV210953	single nucleotide variant	NM_024996.7(GFM1):c.238A>G (p.Lys80Glu)	not provided [RCV000197651]	uncertain significance	3	158646168	158646168	Human		name
10409956	CV210964	single nucleotide variant	NM_024996.7(GFM1):c.1209C>T (p.Ala403=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147220]\|not provided [RCV000946773]\|not specified [RCV000197193]	benign	3	158659047	158659047	Human	1	name
10409961	CV210968	single nucleotide variant	NM_024996.7(GFM1):c.1593C>T (p.Ala531=)	GFM1-related disorder [RCV003927840]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148120]\|not provided [RCV000883125]\|not specified [RCV000197206]	benign\|likely benign	3	158666378	158666378	Human	1	name , trait , alternate_id
155940136	CV2119771	single nucleotide variant	NM_024996.7(GFM1):c.1374T>A (p.Ser458=)	not provided [RCV002971224]	likely benign	3	158662678	158662678	Human		name
156306291	CV2129792	single nucleotide variant	NM_024996.7(GFM1):c.2103T>C (p.Thr701=)	not provided [RCV002962381]	likely benign	3	158691171	158691171	Human		name
156208740	CV2131463	duplication	NM_024996.7(GFM1):c.303dup (p.Ile102fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004572498]\|not provided [RCV002985505]	pathogenic\|likely pathogenic	3	158646232	158646233	Human	1	name
156245011	CV2147751	single nucleotide variant	NM_024996.7(GFM1):c.1539C>T (p.Gly513=)	not provided [RCV003026143]	likely benign	3	158666324	158666324	Human		name
156248786	CV2156167	single nucleotide variant	NM_024996.7(GFM1):c.2238A>G (p.Lys746=)	not provided [RCV003008370]	likely benign	3	158691449	158691449	Human		name
156365851	CV2177003	single nucleotide variant	NM_024996.7(GFM1):c.2130G>A (p.Lys710=)	not provided [RCV003049342]	likely benign	3	158691341	158691341	Human		name
156258092	CV2185402	single nucleotide variant	NM_024996.7(GFM1):c.1677G>A (p.Leu559=)	not provided [RCV003044023]	likely benign	3	158682070	158682070	Human		name
156261511	CV2191048	single nucleotide variant	NM_024996.7(GFM1):c.2112G>A (p.Arg704=)	not provided [RCV003044134]	likely benign	3	158691180	158691180	Human		name
156200229	CV2256060	single nucleotide variant	NM_024996.7(GFM1):c.268G>C (p.Asp90His)	Inborn genetic diseases [RCV002803410]	uncertain significance	3	158646198	158646198	Human	1	name
243059819	CV2412626	single nucleotide variant	NM_024996.7(GFM1):c.1209C>A (p.Ala403=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003135362]	uncertain significance	3	158659047	158659047	Human	1	name
329350064	CV2477262	single nucleotide variant	NM_024996.7(GFM1):c.130G>A (p.Glu44Lys)	not provided [RCV003221587]	uncertain significance	3	158645677	158645677	Human		name
329350068	CV2477263	single nucleotide variant	NM_024996.7(GFM1):c.137T>A (p.Ile46Lys)	not provided [RCV003221588]	uncertain significance	3	158645684	158645684	Human		name
401856598	CV2752587	single nucleotide variant	NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003340925]	uncertain significance	3	158645699	158645699	Human	1	name
401941349	CV2836006	deletion	NM_024996.7(GFM1):c.914del (p.Gly305fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461690]	pathogenic	3	158653382	158653382	Human	1	name
401943305	CV2836008	deletion	NM_024996.7(GFM1):c.626del (p.Gly209fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468268]	likely pathogenic	3	158649092	158649092	Human	1	name
401941376	CV2836011	duplication	NM_024996.7(GFM1):c.579dup (p.Leu194fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461693]	likely pathogenic	3	158649044	158649045	Human	1	name
401941381	CV2836019	deletion	NM_024996.7(GFM1):c.909del (p.Asn303fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461698]	likely pathogenic	3	158653378	158653378	Human	1	name
401943044	CV2836022	deletion	NM_024996.7(GFM1):c.381del (p.Phe127fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468273]	likely pathogenic	3	158646756	158646756	Human	1	name
401942875	CV2836033	duplication	NM_024996.7(GFM1):c.361dup (p.Thr121fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468278]	likely pathogenic	3	158646290	158646291	Human	1	name
401942879	CV2836035	deletion	NM_024996.7(GFM1):c.636del (p.Gly213fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468279]	likely pathogenic	3	158649102	158649102	Human	1	name
401941390	CV2836037	deletion	NM_024996.7(GFM1):c.974del (p.Asn325fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461707]\|not provided [RCV003708805]	pathogenic\|likely pathogenic	3	158653442	158653442	Human	1	name
405016362	CV2855753	single nucleotide variant	NM_024996.7(GFM1):c.1242C>G (p.Ala414=)	not provided [RCV003577166]	likely benign	3	158660894	158660894	Human		name
402483176	CV2860754	single nucleotide variant	NM_024996.7(GFM1):c.2019G>T (p.Gly673=)	not provided [RCV003544224]	likely benign	3	158690272	158690272	Human		name
405175696	CV2864618	insertion	NM_024996.7(GFM1):c.1602-19_1602-18insC	not provided [RCV003542738]	likely benign	3	158681976	158681977	Human		name
402490305	CV2867000	single nucleotide variant	NM_024996.7(GFM1):c.1791C>T (p.Gly597=)	not provided [RCV003544815]	likely benign	3	158684550	158684550	Human		name
402495190	CV2875085	single nucleotide variant	NM_024996.7(GFM1):c.2031G>A (p.Gly677=)	not provided [RCV003545325]	likely benign	3	158690284	158690284	Human		name
405224819	CV2885656	single nucleotide variant	NM_024996.7(GFM1):c.1719A>G (p.Thr573=)	not provided [RCV003554477]	likely benign	3	158682112	158682112	Human		name
405048181	CV2886695	single nucleotide variant	NM_024996.7(GFM1):c.1182G>A (p.Arg394=)	not provided [RCV003579600]	likely benign	3	158659020	158659020	Human		name
405228333	CV2894537	single nucleotide variant	NM_024996.7(GFM1):c.1554A>G (p.Thr518=)	not provided [RCV003555066]	likely benign	3	158666339	158666339	Human		name
11646658	CV290038	deletion	NM_024996.7(GFM1):c.424del (p.Val142fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000272222]\|not provided [RCV000814936]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	158646799	158646799	Human	1	name
402475880	CV2916085	single nucleotide variant	NM_024996.7(GFM1):c.2077C>T (p.Leu693=)	not provided [RCV003571314]	likely benign	3	158691145	158691145	Human		name
405212668	CV2917597	single nucleotide variant	NM_024996.7(GFM1):c.1911C>T (p.Ala637=)	not provided [RCV003567362]	likely benign	3	158690164	158690164	Human		name
405202658	CV2918714	single nucleotide variant	NM_024996.7(GFM1):c.1183T>C (p.Leu395=)	not provided [RCV003565999]	likely benign	3	158659021	158659021	Human		name
402482736	CV2921825	single nucleotide variant	NM_024996.7(GFM1):c.1416G>A (p.Arg472=)	not provided [RCV003572242]	likely benign	3	158665372	158665372	Human		name
405064800	CV2927307	single nucleotide variant	NM_024996.7(GFM1):c.1929A>G (p.Leu643=)	not provided [RCV003580682]	likely benign	3	158690182	158690182	Human		name
405039898	CV2929961	single nucleotide variant	NM_024996.7(GFM1):c.1287C>T (p.Asp429=)	not provided [RCV003579027]	likely benign	3	158660939	158660939	Human		name
11589760	CV293129	single nucleotide variant	NM_024996.7(GFM1):c.1831C>T (p.Leu611=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000312996]\|not provided [RCV001521349]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158684590	158684590	Human	1	name
11585522	CV293543	single nucleotide variant	NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000281525]\|not provided [RCV000952513]\|not specified [RCV000429176]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158654580	158654580	Human	1	name
11584766	CV293571	single nucleotide variant	NM_024996.7(GFM1):c.2190C>T (p.Asp730=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000275898]\|not provided [RCV000913641]	benign\|likely benign\|uncertain significance	3	158691401	158691401	Human	1	name
405067585	CV2944603	single nucleotide variant	NM_024996.7(GFM1):c.2013C>T (p.Arg671=)	not provided [RCV003663783]	likely benign	3	158690266	158690266	Human		name
405176493	CV2951954	single nucleotide variant	NM_024996.7(GFM1):c.1812C>G (p.Leu604=)	not provided [RCV003675875]	likely benign	3	158684571	158684571	Human		name
405128723	CV2957168	single nucleotide variant	NM_024996.7(GFM1):c.2247C>T (p.Ala749=)	not provided [RCV003672122]	likely benign	3	158691458	158691458	Human		name
405241176	CV2970687	single nucleotide variant	NM_024996.7(GFM1):c.1338T>G (p.Val446=)	not provided [RCV003684076]	likely benign	3	158662642	158662642	Human		name
405214321	CV2981370	single nucleotide variant	NM_024996.7(GFM1):c.1863T>C (p.Ser621=)	not provided [RCV003709113]	likely benign	3	158684622	158684622	Human		name
405248496	CV2982357	single nucleotide variant	NM_024996.7(GFM1):c.2205T>C (p.Tyr735=)	not provided [RCV003685912]	likely benign	3	158691416	158691416	Human		name
402515160	CV2993196	single nucleotide variant	NM_024996.7(GFM1):c.1470G>A (p.Glu490=)	not provided [RCV003716009]	likely benign	3	158665426	158665426	Human		name
405205734	CV2997820	single nucleotide variant	NM_024996.7(GFM1):c.2025C>T (p.Ile675=)	not provided [RCV003678709]	likely benign	3	158690278	158690278	Human		name
404988710	CV2998476	single nucleotide variant	NM_024996.7(GFM1):c.295G>T (p.Gly99Ter)	not provided [RCV003692030]	pathogenic	3	158646225	158646225	Human		name
402481092	CV3001088	single nucleotide variant	NM_024996.7(GFM1):c.1815T>C (p.Ser605=)	not provided [RCV003686614]	likely benign	3	158684574	158684574	Human		name
405248407	CV3003655	single nucleotide variant	NM_024996.7(GFM1):c.2241A>G (p.Gly747=)	not provided [RCV003721111]	likely benign	3	158691452	158691452	Human		name
405121883	CV3004173	single nucleotide variant	NM_024996.7(GFM1):c.1017C>T (p.Thr339=)	not provided [RCV003723977]	likely benign	3	158654565	158654565	Human		name
402505389	CV3007277	single nucleotide variant	NM_024996.7(GFM1):c.1512T>C (p.Tyr504=)	not provided [RCV003688793]	likely benign	3	158665468	158665468	Human		name
402524127	CV3015055	single nucleotide variant	NM_024996.7(GFM1):c.1731T>C (p.Asn577=)	not provided [RCV003690516]	likely benign	3	158682124	158682124	Human		name
405121565	CV3024624	single nucleotide variant	NM_024996.7(GFM1):c.1134A>G (p.Leu378=)	not provided [RCV003700814]	likely benign	3	158658972	158658972	Human		name
402478136	CV3032925	single nucleotide variant	NM_024996.7(GFM1):c.1758A>G (p.Val586=)	not provided [RCV003712524]	likely benign	3	158682151	158682151	Human		name
405186896	CV3040506	single nucleotide variant	NM_024996.7(GFM1):c.1014A>G (p.Lys338=)	not provided [RCV003706042]	likely benign	3	158654562	158654562	Human		name
405079232	CV3050308	single nucleotide variant	NM_024996.7(GFM1):c.2172A>G (p.Leu724=)	not provided [RCV003717006]	likely benign	3	158691383	158691383	Human		name
405040159	CV3067952	single nucleotide variant	NM_024996.7(GFM1):c.1479A>T (p.Ile493=)	not provided [RCV003739854]	likely benign	3	158665435	158665435	Human		name
405040172	CV3067953	single nucleotide variant	NM_024996.7(GFM1):c.1890A>G (p.Gly630=)	not provided [RCV003739855]	likely benign	3	158684649	158684649	Human		name
405236975	CV3076420	single nucleotide variant	NM_024996.7(GFM1):c.1401A>G (p.Ser467=)	not provided [RCV003735954]	likely benign	3	158665357	158665357	Human		name
405114135	CV3133839	single nucleotide variant	NM_024996.7(GFM1):c.2028T>A (p.Thr676=)	not provided [RCV003836634]	likely benign	3	158690281	158690281	Human		name
405175928	CV3148158	deletion	NM_024996.7(GFM1):c.857del (p.Ala286fs)	not provided [RCV003858130]	pathogenic	3	158653326	158653326	Human		name
405224982	CV3158881	single nucleotide variant	NM_024996.7(GFM1):c.1212C>T (p.Asp404=)	not provided [RCV003864183]	likely benign	3	158659050	158659050	Human		name
405251448	CV3181327	single nucleotide variant	NM_024996.7(GFM1):c.1800T>C (p.Ser600=)	not provided [RCV003870329]	likely benign	3	158684559	158684559	Human		name
405292618	CV3192779	single nucleotide variant	NM_024996.7(GFM1):c.1503G>T (p.Leu501=)	GFM1-related disorder [RCV003964600]	likely benign	3	158665459	158665459	Human		name , trait , alternate_id
405868969	CV3400676	deletion	NM_024996.7(GFM1):c.548del (p.Pro183fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576679]	likely pathogenic	3	158646921	158646921	Human	1	name
596930095	CV3538687	single nucleotide variant	NM_024996.7(GFM1):c.221C>T (p.Ala74Val)	not provided [RCV004792156]	uncertain significance	3	158645768	158645768	Human		name
12743223	CV361581	duplication	NM_024996.7(GFM1):c.829dup (p.Ser277fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000779394]\|not provided [RCV000416186]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	158652232	158652233	Human	1	name
12836918	CV367003	single nucleotide variant	NM_024996.7(GFM1):c.1494A>G (p.Glu498=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148119]\|not provided [RCV000897890]	likely benign\|uncertain significance	3	158665450	158665450	Human	1	name
12837315	CV367254	single nucleotide variant	NM_024996.7(GFM1):c.2059C>T (p.Leu687=)	GFM1-related disorder [RCV003970232]\|not provided [RCV000881004]	benign\|likely benign	3	158690312	158690312	Human	1	name , trait , alternate_id
12847695	CV368282	single nucleotide variant	NM_024996.7(GFM1):c.1626A>G (p.Gln542=)	not provided [RCV002522390]\|not specified [RCV000443950]	likely benign\|uncertain significance	3	158682019	158682019	Human		name
597904680	CV3784676	single nucleotide variant	NM_024996.7(GFM1):c.155C>T (p.Ser52Leu)	not provided [RCV005127727]	uncertain significance	3	158645702	158645702	Human		name
597873568	CV3836324	single nucleotide variant	NM_024996.7(GFM1):c.1989A>G (p.Gln663=)	not provided [RCV005177121]	likely benign	3	158690242	158690242	Human		name
13527487	CV500085	single nucleotide variant	NM_024996.7(GFM1):c.1377C>T (p.Asn459=)	not provided [RCV000943989]\|not specified [RCV000605197]	likely benign	3	158662681	158662681	Human		name
14704643	CV631016	single nucleotide variant	NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003467367]\|not provided [RCV000798054]	pathogenic	3	158645740	158645740	Human	1	name
14712185	CV631019	duplication	NM_024996.7(GFM1):c.521dup (p.Asn174fs)	not provided [RCV000819934]	pathogenic	3	158646894	158646895	Human		name
14704846	CV631020	deletion	NM_024996.7(GFM1):c.539del (p.Gly180fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003232990]\|not provided [RCV000798894]	pathogenic	3	158646912	158646912	Human	1	name
14708463	CV631021	deletion	NM_024996.7(GFM1):c.720del (p.Glu241fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001273488]\|not provided [RCV000809691]	pathogenic	3	158652126	158652126	Human	1	name
15202095	CV720277	single nucleotide variant	NM_024996.7(GFM1):c.1102T>C (p.Leu368=)	GFM1-related disorder [RCV003950391]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272462]\|not provided [RCV000891379]	likely benign	3	158658940	158658940	Human	1	name , trait , alternate_id
15168199	CV733888	single nucleotide variant	NM_024996.7(GFM1):c.1368G>A (p.Lys456=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272464]\|not provided [RCV000904804]	likely benign	3	158662672	158662672	Human	1	name
15152469	CV733889	single nucleotide variant	NM_024996.7(GFM1):c.1683A>G (p.Pro561=)	not provided [RCV000901572]	likely benign	3	158682076	158682076	Human		name
15150014	CV748088	single nucleotide variant	NM_024996.7(GFM1):c.220G>T (p.Ala74Ser)	GFM1-related disorder [RCV003923302]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272458]\|not provided [RCV000923394]	likely benign\|uncertain significance	3	158645767	158645767	Human	1	name , trait , alternate_id
15113655	CV748090	single nucleotide variant	NM_024996.7(GFM1):c.1308C>T (p.Asn436=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272463]\|not provided [RCV000917135]	likely benign	3	158660960	158660960	Human	1	name
15138203	CV748091	single nucleotide variant	NM_024996.7(GFM1):c.2016T>C (p.His672=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001825858]\|not provided [RCV000921294]	benign\|likely benign	3	158690269	158690269	Human	1	name
15173822	CV763716	single nucleotide variant	NM_024996.7(GFM1):c.1110T>C (p.Tyr370=)	not provided [RCV000928367]	likely benign	3	158658948	158658948	Human		name
15172320	CV763717	single nucleotide variant	NM_024996.7(GFM1):c.1242C>T (p.Ala414=)	not provided [RCV000928089]	likely benign	3	158660894	158660894	Human		name
15125847	CV763718	single nucleotide variant	NM_024996.7(GFM1):c.1305C>G (p.Ala435=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147221]\|not provided [RCV000941272]	likely benign\|uncertain significance	3	158660957	158660957	Human	1	name
15181531	CV763719	single nucleotide variant	NM_024996.7(GFM1):c.1704A>G (p.Glu568=)	not provided [RCV000930149]	likely benign	3	158682097	158682097	Human		name
15196228	CV763720	single nucleotide variant	NM_024996.7(GFM1):c.1926A>G (p.Thr642=)	not provided [RCV000934162]	likely benign	3	158690179	158690179	Human		name
15175415	CV763721	single nucleotide variant	NM_024996.7(GFM1):c.2163G>A (p.Gln721=)	not provided [RCV000928670]	likely benign	3	158691374	158691374	Human		name
15191510	CV763722	single nucleotide variant	NM_024996.7(GFM1):c.2232T>C (p.Val744=)	not provided [RCV000932821]	likely benign	3	158691443	158691443	Human		name
15142716	CV781602	single nucleotide variant	NM_024996.7(GFM1):c.1116C>T (p.Arg372=)	not provided [RCV000983205]	likely benign	3	158658954	158658954	Human		name
15117346	CV781603	single nucleotide variant	NM_024996.7(GFM1):c.1362A>G (p.Ala454=)	not provided [RCV000978748]	likely benign	3	158662666	158662666	Human		name
15129504	CV781604	single nucleotide variant	NM_024996.7(GFM1):c.1656A>G (p.Val552=)	not provided [RCV000980888]	likely benign	3	158682049	158682049	Human		name
15107305	CV781605	single nucleotide variant	NM_024996.7(GFM1):c.1722C>T (p.Phe574=)	not provided [RCV000976800]	likely benign	3	158682115	158682115	Human		name
15124977	CV781606	single nucleotide variant	NM_024996.7(GFM1):c.1830C>T (p.Val610=)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001832275]\|not provided [RCV000980112]	likely benign	3	158684589	158684589	Human	1	name
21404288	CV800333	single nucleotide variant	NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002683]\|not provided [RCV002549188]	pathogenic\|likely pathogenic	3	158645647	158645647	Human	1	name
21404280	CV800334	single nucleotide variant	NM_024996.7(GFM1):c.248A>T (p.Asp83Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002680]\|not provided [RCV003769390]\|not specified [RCV004702570]	pathogenic\|likely pathogenic\|uncertain significance	3	158646178	158646178	Human	1	name
38460563	CV931813	duplication	NM_024996.7(GFM1):c.486dup (p.Lys163fs)	not provided [RCV001211855]	pathogenic	3	158646860	158646861	Human		name
40906631	CV977816	single nucleotide variant	NM_024996.7(GFM1):c.221C>G (p.Ala74Gly)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280043]	uncertain significance	3	158645768	158645768	Human	1	name
126740227	CV1016194	single nucleotide variant	NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001329387]	uncertain significance	3	158646783	158646783	Human	1	name
127262956	CV1059669	deletion	NM_024996.7(GFM1):c.1346del (p.Pro449fs)	not provided [RCV001380852]	pathogenic	3	158662649	158662649	Human		name
127234267	CV1108807	single nucleotide variant	NM_024996.7(GFM1):c.409G>A (p.Val137Met)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001449659]	pathogenic\|likely pathogenic	3	158646784	158646784	Human	1	name
150429566	CV1189280	single nucleotide variant	NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001563841]\|Inborn genetic diseases [RCV002568428]\|not provided [RCV002072149]	likely benign\|uncertain significance	3	158646274	158646274	Human	2	name
150544345	CV1313288	deletion	NM_024996.7(GFM1):c.1510del (p.Tyr504fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001783359]	pathogenic	3	158665466	158665466	Human	1	name
151811749	CV1376751	deletion	NM_024996.7(GFM1):c.1217del (p.Met406fs)	not provided [RCV001900022]	pathogenic	3	158659055	158659055	Human		name
151834519	CV1384956	single nucleotide variant	NM_024996.7(GFM1):c.928T>G (p.Leu310Val)	Inborn genetic diseases [RCV005343188]\|not provided [RCV001956014]	uncertain significance	3	158653397	158653397	Human	1	name
151865072	CV1405948	single nucleotide variant	NM_024996.7(GFM1):c.898G>A (p.Ala300Thr)	not provided [RCV001959726]	uncertain significance	3	158653367	158653367	Human		name
8691207	CV141167	single nucleotide variant	NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000999807]\|not provided [RCV000224568]\|not specified [RCV000125225]	benign\|likely benign	3	158646851	158646851	Human	1	name
8691208	CV141168	single nucleotide variant	NM_024996.7(GFM1):c.568A>C (p.Met190Leu)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000368039]\|not provided [RCV000224632]\|not specified [RCV000125226]	benign\|likely benign\|uncertain significance	3	158646943	158646943	Human	1	name
151810708	CV1417379	single nucleotide variant	NM_024996.7(GFM1):c.626G>A (p.Gly209Asp)	not provided [RCV002028944]	uncertain significance	3	158649094	158649094	Human		name
151745926	CV1428227	deletion	NM_024996.7(GFM1):c.1172del (p.Lys391fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471067]\|not provided [RCV001926961]	pathogenic\|likely pathogenic	3	158659008	158659008	Human	1	name
151884131	CV1428542	single nucleotide variant	NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471142]\|not provided [RCV002000204]	pathogenic\|likely pathogenic	3	158653319	158653319	Human	1	name
151790768	CV1436152	deletion	NM_024996.7(GFM1):c.1878del (p.Phe626fs)	not provided [RCV001990059]	pathogenic	3	158684637	158684637	Human		name
151756271	CV1449341	single nucleotide variant	NM_024996.7(GFM1):c.491G>A (p.Arg164His)	not provided [RCV001986779]	uncertain significance	3	158646866	158646866	Human		name
151844551	CV1457853	single nucleotide variant	NM_024996.7(GFM1):c.335A>G (p.Lys112Arg)	not provided [RCV001936531]	uncertain significance	3	158646265	158646265	Human		name
151760159	CV1459382	single nucleotide variant	NM_024996.7(GFM1):c.910A>G (p.Lys304Glu)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005023284]\|not provided [RCV002044178]	likely pathogenic	3	158653379	158653379	Human	1	name
151887216	CV1464495	single nucleotide variant	NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464305]\|not provided [RCV001942340]	pathogenic\|likely pathogenic	3	158646907	158646907	Human	1	name
151787838	CV1471467	duplication	NM_024996.7(GFM1):c.1015dup (p.Thr339fs)	not provided [RCV001972741]	pathogenic	3	158654559	158654560	Human		name
151807907	CV1477712	deletion	NM_024996.7(GFM1):c.89_99del (p.Trp30fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003146413]\|not provided [RCV001953530]	pathogenic\|likely pathogenic	3	158645636	158645646	Human	1	name
152029582	CV1568345	single nucleotide variant	NM_024996.7(GFM1):c.988A>G (p.Asn330Asp)	not provided [RCV002105636]	likely benign	3	158653457	158653457	Human		name
156347866	CV1868525	single nucleotide variant	NM_024996.7(GFM1):c.490C>T (p.Arg164Cys)	not provided [RCV003064618]	uncertain significance	3	158646865	158646865	Human		name
155987891	CV1884163	single nucleotide variant	NM_024996.7(GFM1):c.662G>A (p.Arg221Gln)	Inborn genetic diseases [RCV004985175]\|not provided [RCV003075974]	uncertain significance	3	158649130	158649130	Human	1	name
156406180	CV1894783	duplication	NM_024996.7(GFM1):c.1632dup (p.Gly545fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003465956]\|not provided [RCV003070265]	pathogenic\|likely pathogenic	3	158682024	158682025	Human	1	name
155941923	CV1902227	single nucleotide variant	NM_024996.7(GFM1):c.707G>A (p.Gly236Asp)	not provided [RCV003073598]	uncertain significance	3	158652113	158652113	Human		name
156294667	CV1904492	single nucleotide variant	NM_024996.7(GFM1):c.703T>A (p.Tyr235Asn)	Inborn genetic diseases [RCV004985208]\|not provided [RCV002598896]	uncertain significance	3	158652109	158652109	Human	1	name
8596314	CV19199	single nucleotide variant	NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000004377]\|not provided [RCV000657878]	pathogenic\|likely pathogenic	3	158646896	158646896	Human	1	name
156389900	CV1980110	single nucleotide variant	NM_024996.7(GFM1):c.824C>T (p.Ser275Leu)	not provided [RCV002634889]	uncertain significance	3	158652230	158652230	Human		name
156255083	CV2041229	single nucleotide variant	NM_024996.7(GFM1):c.502C>T (p.Pro168Ser)	not provided [RCV002806140]	uncertain significance	3	158646877	158646877	Human		name
156006275	CV2041964	single nucleotide variant	NM_024996.7(GFM1):c.307C>T (p.Gln103Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005027946]\|not provided [RCV002756445]	pathogenic\|likely pathogenic	3	158646237	158646237	Human	1	name
156096955	CV2050910	single nucleotide variant	NM_024996.7(GFM1):c.931G>A (p.Asp311Asn)	not provided [RCV002824408]	uncertain significance	3	158653400	158653400	Human		name
156024482	CV2077945	deletion	NM_024996.7(GFM1):c.1406del (p.Gly469fs)	not provided [RCV002866766]	pathogenic	3	158665361	158665361	Human		name
156080937	CV2083679	single nucleotide variant	NM_024996.7(GFM1):c.604C>T (p.Gln202Ter)	not provided [RCV002847382]	pathogenic	3	158649072	158649072	Human		name
156105243	CV2084365	deletion	NM_024996.7(GFM1):c.1589del (p.Thr530fs)	not provided [RCV002848233]	pathogenic	3	158666374	158666374	Human		name
156335312	CV2099370	single nucleotide variant	NM_024996.7(GFM1):c.715C>T (p.Pro239Ser)	not provided [RCV002900169]	uncertain significance	3	158652121	158652121	Human		name
156245775	CV2105624	duplication	NM_024996.7(GFM1):c.1831dup (p.Leu611fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005028031]\|not provided [RCV002933367]	pathogenic\|likely pathogenic	3	158684588	158684589	Human	1	name
10410599	CV210956	single nucleotide variant	NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000764473]\|not provided [RCV000198516]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	158649090	158649090	Human	1	name
10411189	CV210957	single nucleotide variant	NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	GFM1-related disorder [RCV003417713]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003330568]\|not provided [RCV000199744]	pathogenic\|likely pathogenic	3	158649156	158649156	Human	1	name , trait , alternate_id
10410633	CV210959	single nucleotide variant	NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000995549]\|not provided [RCV000198570]	pathogenic\|likely pathogenic	3	158652106	158652106	Human	1	name
10410980	CV210960	single nucleotide variant	NM_024996.7(GFM1):c.731C>T (p.Ala244Val)	not provided [RCV002122403]	likely benign	3	158652137	158652137	Human		name
10409807	CV210969	deletion	NM_024996.7(GFM1):c.1596del (p.Val533fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468887]\|not provided [RCV000196892]	pathogenic\|likely pathogenic	3	158666381	158666381	Human	1	name
10410726	CV210972	deletion	NM_024996.7(GFM1):c.2232del (p.Gly747fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001833146]\|not provided [RCV000198766]	pathogenic\|likely pathogenic\|uncertain significance	3	158691442	158691442	Human	1	name
156318316	CV2137878	single nucleotide variant	NM_024996.7(GFM1):c.595G>T (p.Ala199Ser)	Inborn genetic diseases [RCV003170768]\|not provided [RCV002963035]	uncertain significance	3	158649063	158649063	Human	1	name
156081545	CV2138224	single nucleotide variant	NM_024996.7(GFM1):c.796G>T (p.Glu266Ter)	not provided [RCV002979277]	pathogenic	3	158652202	158652202	Human		name
155980875	CV2140415	single nucleotide variant	NM_024996.7(GFM1):c.406A>G (p.Arg136Gly)	not provided [RCV002996092]	uncertain significance	3	158646781	158646781	Human		name
155929475	CV2155726	single nucleotide variant	NM_024996.7(GFM1):c.817A>G (p.Ile273Val)	not provided [RCV003013561]	uncertain significance	3	158652223	158652223	Human		name
156323406	CV2163031	single nucleotide variant	NM_024996.7(GFM1):c.332G>A (p.Trp111Ter)	not provided [RCV003029326]	pathogenic	3	158646262	158646262	Human		name
156339055	CV2179621	deletion	NM_024996.7(GFM1):c.1634del (p.Gly545fs)	not provided [RCV003030184]	pathogenic	3	158682026	158682026	Human		name
156312776	CV2196415	single nucleotide variant	NM_024996.7(GFM1):c.551C>T (p.Ala184Val)	Inborn genetic diseases [RCV002648298]	uncertain significance	3	158646926	158646926	Human	1	name
156276409	CV2255784	single nucleotide variant	NM_024996.7(GFM1):c.319A>G (p.Thr107Ala)	Inborn genetic diseases [RCV002792804]	uncertain significance	3	158646249	158646249	Human	1	name
156026967	CV2271124	single nucleotide variant	NM_024996.7(GFM1):c.980C>G (p.Ala327Gly)	Inborn genetic diseases [RCV002845093]	uncertain significance	3	158653449	158653449	Human	1	name
156266786	CV2305592	single nucleotide variant	NM_024996.7(GFM1):c.631T>C (p.Phe211Leu)	Inborn genetic diseases [RCV002920851]	uncertain significance	3	158649099	158649099	Human	1	name
243052275	CV2412625	single nucleotide variant	NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003131016]	uncertain significance	3	158652236	158652236	Human	1	name
243050987	CV2415598	single nucleotide variant	NM_024996.7(GFM1):c.754G>A (p.Glu252Lys)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003148198]	uncertain significance	3	158652160	158652160	Human	1	name
243051496	CV2415933	single nucleotide variant	NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003148553]	uncertain significance	3	158649043	158649043	Human	1	name
243053314	CV2418137	single nucleotide variant	NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003153203]	uncertain significance	3	158649147	158649147	Human	1	name
329358873	CV2454335	single nucleotide variant	NM_024996.7(GFM1):c.982A>G (p.Ile328Val)	Inborn genetic diseases [RCV003204080]	uncertain significance	3	158653451	158653451	Human	1	name
401897548	CV2787010	single nucleotide variant	NM_024996.7(GFM1):c.379T>C (p.Phe127Leu)	Inborn genetic diseases [RCV003375051]	uncertain significance	3	158646754	158646754	Human	1	name
401934668	CV2800499	single nucleotide variant	NM_024996.7(GFM1):c.851G>A (p.Arg284Gln)	GFM1-related disorder [RCV003412009]	uncertain significance	3	158653320	158653320	Human		name , trait , alternate_id
401943309	CV2836007	single nucleotide variant	NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468267]\|not provided [RCV003699108]	pathogenic\|likely pathogenic	3	158652193	158652193	Human	1	name
401941375	CV2836010	single nucleotide variant	NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461692]	likely pathogenic	3	158652111	158652111	Human	1	name
401941382	CV2836020	single nucleotide variant	NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461699]	likely pathogenic	3	158653398	158653398	Human	1	name
401942942	CV2836023	duplication	NM_024996.7(GFM1):c.1157dup (p.Asn386fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468274]	likely pathogenic	3	158658993	158658994	Human	1	name
401942866	CV2836027	deletion	NM_024996.7(GFM1):c.1951del (p.Ala651fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468276]	likely pathogenic	3	158690203	158690203	Human	1	name
401941385	CV2836028	single nucleotide variant	NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461702]\|not provided [RCV003661061]	pathogenic\|likely pathogenic	3	158652131	158652131	Human	1	name
401941386	CV2836029	duplication	NM_024996.7(GFM1):c.1303dup (p.Ala435fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461703]	likely pathogenic	3	158660954	158660955	Human	1	name
401941387	CV2836030	single nucleotide variant	NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461704]	likely pathogenic	3	158646902	158646902	Human	1	name
401941388	CV2836032	deletion	NM_024996.7(GFM1):c.1799del (p.Ser600fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461705]	likely pathogenic	3	158684558	158684558	Human	1	name
401941389	CV2836034	single nucleotide variant	NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461706]	likely pathogenic	3	158646254	158646254	Human	1	name
402477430	CV2853759	duplication	NM_024996.7(GFM1):c.1399dup (p.Ser467fs)	not provided [RCV003543609]	pathogenic	3	158665351	158665352	Human		name
11594727	CV289258	single nucleotide variant	NM_024996.7(GFM1):c.373G>A (p.Val125Met)	GFM1-related disorder [RCV004748738]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000362292]\|not provided [RCV000942298]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158646748	158646748	Human	1	name , trait , alternate_id
11591986	CV289259	single nucleotide variant	NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987347]\|not provided [RCV000676468]\|not specified [RCV001795959]	benign	3	158649111	158649111	Human	4	name
11591986	CV289259	single nucleotide variant	NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987347]\|not provided [RCV000676468]\|not specified [RCV001795959]	benign	3	158649111	158649112	Human	4	name
405165454	CV2905886	single nucleotide variant	NM_024996.7(GFM1):c.628A>G (p.Asn210Asp)	not provided [RCV003562704]	uncertain significance	3	158649096	158649096	Human		name
405212904	CV2984050	single nucleotide variant	NM_024996.7(GFM1):c.494A>G (p.Tyr165Cys)	not provided [RCV003708864]	uncertain significance	3	158646869	158646869	Human		name
405170533	CV3122490	single nucleotide variant	NM_024996.7(GFM1):c.691C>T (p.Gln231Ter)	not provided [RCV003819079]	pathogenic	3	158652097	158652097	Human		name
405281559	CV3224212	single nucleotide variant	NM_024996.7(GFM1):c.961T>C (p.Ser321Pro)	not specified [RCV003988594]	uncertain significance	3	158653430	158653430	Human		name
405786573	CV3258292	single nucleotide variant	NM_024996.7(GFM1):c.614T>C (p.Met205Thr)	Inborn genetic diseases [RCV004387796]	uncertain significance	3	158649082	158649082	Human	1	name
405868976	CV3400679	duplication	NM_024996.7(GFM1):c.323dup (p.Tyr108Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576682]	likely pathogenic	3	158646252	158646253	Human	1	name
407512860	CV3433019	single nucleotide variant	NM_024996.7(GFM1):c.479G>A (p.Arg160His)	Inborn genetic diseases [RCV004626936]	uncertain significance	3	158646854	158646854	Human	1	name
597871103	CV3805951	deletion	NM_024996.7(GFM1):c.2068del (p.Asp690fs)	not provided [RCV005148361]	pathogenic	3	158690321	158690321	Human		name
597876586	CV3859941	single nucleotide variant	NM_024996.7(GFM1):c.964G>A (p.Glu322Lys)	not provided [RCV005198349]	uncertain significance	3	158653433	158653433	Human		name
8602269	CV39555	single nucleotide variant	NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	Combined oxidative phosphorylation deficiency [RCV000851197]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000023564]\|See cases [RCV003156063]\|not provided [RCV000800330]	pathogenic\|likely pathogenic	3	158652154	158652154	Human	2	name
617152750	CV4018380	single nucleotide variant	NM_024996.7(GFM1):c.640A>T (p.Ile214Phe)	not specified [RCV005418640]	uncertain significance	3	158649108	158649108	Human		name
12906536	CV414920	single nucleotide variant	NM_024996.7(GFM1):c.776A>G (p.Asn259Ser)	not provided [RCV000489339]	likely pathogenic\|conflicting interpretations of pathogenicity	3	158652182	158652182	Human		name
13528243	CV513259	single nucleotide variant	NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000625929]	likely pathogenic	3	158646770	158646770	Human	1	name
13705927	CV536641	single nucleotide variant	NM_024996.7(GFM1):c.455A>C (p.Gln152Pro)	not provided [RCV000658473]	likely pathogenic\|conflicting interpretations of pathogenicity	3	158646830	158646830	Human		name
15184721	CV720276	single nucleotide variant	NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)	GFM1-related disorder [RCV003968054]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272460]\|not provided [RCV000886511]	benign\|likely benign	3	158652194	158652194	Human	1	name , trait , alternate_id
15120722	CV748089	single nucleotide variant	NM_024996.7(GFM1):c.667A>G (p.Ile223Val)	GFM1-related disorder [RCV003960371]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272459]\|not provided [RCV000918367]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158649135	158649135	Human	1	name , trait , alternate_id
28912120	CV800335	single nucleotide variant	NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002678]	pathogenic	3	158653427	158653427	Human	1	name
21404278	CV800338	deletion	NM_024996.7(GFM1):c.1404del (p.Gly469fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002677]\|not provided [RCV001869432]	pathogenic	3	158665357	158665357	Human	1	name
26899224	CV827644	single nucleotide variant	NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462600]\|not provided [RCV001067025]	pathogenic	3	158649129	158649129	Human	1	name
26902536	CV857615	single nucleotide variant	NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001089485]\|not specified [RCV004702633]	likely pathogenic\|uncertain significance	3	158653421	158653421	Human	1	name
28876049	CV858765	single nucleotide variant	NM_024996.7(GFM1):c.749G>A (p.Arg250Gln)	Developmental regression [RCV001090179]\|not provided [RCV002555936]\|not specified [RCV004526801]	likely pathogenic\|uncertain significance	3	158652155	158652155	Human	1	name
28881227	CV888244	single nucleotide variant	NM_024996.7(GFM1):c.596C>T (p.Ala199Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001149555]	uncertain significance	3	158649064	158649064	Human	1	name
28870224	CV888245	single nucleotide variant	NM_024996.7(GFM1):c.701G>A (p.Arg234Gln)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145270]	uncertain significance	3	158652107	158652107	Human	1	name
38459528	CV918810	single nucleotide variant	NM_024996.7(GFM1):c.607A>G (p.Ile203Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001195913]	uncertain significance	3	158649075	158649075	Human	1	name
38463403	CV918811	single nucleotide variant	NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001199013]	uncertain significance	3	158653350	158653350	Human	1	name
38476813	CV931812	single nucleotide variant	NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004570433]\|not provided [RCV001204850]	pathogenic\|likely pathogenic	3	158646254	158646254	Human	1	name
40906632	CV977817	single nucleotide variant	NM_024996.7(GFM1):c.443T>C (p.Val148Ala)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280044]\|Inborn genetic diseases [RCV004978236]\|not provided [RCV003481048]	uncertain significance	3	158646818	158646818	Human	2	name
40906633	CV977818	single nucleotide variant	NM_024996.7(GFM1):c.616G>T (p.Gly206Cys)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280045]	uncertain significance	3	158649084	158649084	Human	1	name
42722805	CV985200	deletion	NM_024996.7(GFM1):c.1424del (p.Arg475fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003459761]\|See cases [RCV003156151]\|not provided [RCV002616147]	pathogenic\|likely pathogenic	3	158665380	158665380	Human	1	name
126740223	CV1016196	single nucleotide variant	NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001329386]	pathogenic	3	158662628	158662628	Human	1	name
126911063	CV1037334	single nucleotide variant	NM_024996.7(GFM1):c.1936C>T (p.Leu646Phe)	not provided [RCV001354979]	uncertain significance	3	158690189	158690189	Human		name
127252181	CV1055317	single nucleotide variant	NM_024996.7(GFM1):c.2012G>A (p.Arg671His)	not provided [RCV001378703]	likely pathogenic\|likely benign	3	158690265	158690265	Human		name
127268764	CV1059668	single nucleotide variant	NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003463027]\|not provided [RCV001389333]	pathogenic\|likely pathogenic	3	158658928	158658928	Human	1	name
127266169	CV1059671	single nucleotide variant	NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001831380]\|not provided [RCV001381644]	pathogenic\|likely pathogenic	3	158666361	158666361	Human	1	name
127239509	CV1108773	single nucleotide variant	NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001449604]\|not provided [RCV001865913]	pathogenic\|likely pathogenic\|uncertain significance	3	158684582	158684582	Human	1	name
150425939	CV1183292	single nucleotide variant	NM_024996.7(GFM1):c.1256C>T (p.Ala419Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001832761]\|Inborn genetic diseases [RCV002568379]\|not provided [RCV001558686]	uncertain significance	3	158660908	158660908	Human	2	name
150434452	CV1243954	single nucleotide variant	NM_024996.7(GFM1):c.2143A>G (p.Met715Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001827557]\|not provided [RCV001665161]	conflicting interpretations of pathogenicity\|uncertain significance	3	158691354	158691354	Human	1	name
150548797	CV1294520	single nucleotide variant	NM_024996.7(GFM1):c.1814C>T (p.Ser605Phe)	not provided [RCV001752012]	uncertain significance	3	158684573	158684573	Human		name
151803056	CV1354442	single nucleotide variant	NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro)	not provided [RCV001867300]\|not specified [RCV003331220]	uncertain significance	3	158659037	158659037	Human		name
151856578	CV1387648	single nucleotide variant	NM_024996.7(GFM1):c.1814C>G (p.Ser605Cys)	not provided [RCV001996608]	uncertain significance	3	158684573	158684573	Human		name
8691209	CV141169	single nucleotide variant	NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000999813]\|not provided [RCV000676471]\|not specified [RCV000125227]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	158690243	158690243	Human	1	name
151723320	CV1414135	single nucleotide variant	NM_024996.7(GFM1):c.1792C>T (p.Pro598Ser)	not provided [RCV002020476]	uncertain significance	3	158684551	158684551	Human		name
151883680	CV1432195	single nucleotide variant	NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471141]\|not provided [RCV002000104]	pathogenic\|likely pathogenic	3	158684641	158684641	Human	1	name
151889303	CV1435857	single nucleotide variant	NM_024996.7(GFM1):c.1468G>A (p.Glu490Lys)	not provided [RCV001963402]	uncertain significance	3	158665424	158665424	Human		name
151867582	CV1451387	single nucleotide variant	NM_024996.7(GFM1):c.1834C>T (p.Gln612Ter)	not provided [RCV001939353]	pathogenic	3	158684593	158684593	Human		name
151826795	CV1467335	single nucleotide variant	NM_024996.7(GFM1):c.1415G>A (p.Arg472Lys)	Inborn genetic diseases [RCV005343125]\|not provided [RCV001901406]	uncertain significance	3	158665371	158665371	Human	1	name
151785617	CV1493958	single nucleotide variant	NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004571752]\|not provided [RCV001951507]	pathogenic\|likely pathogenic	3	158682035	158682035	Human	1	name
151888773	CV1504438	single nucleotide variant	NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464329]\|not provided [RCV001963289]	pathogenic\|likely pathogenic	3	158659024	158659024	Human	1	name
151729180	CV1505328	single nucleotide variant	NM_024996.7(GFM1):c.1544C>T (p.Pro515Leu)	Inborn genetic diseases [RCV003289392]\|not provided [RCV002021112]	uncertain significance	3	158666329	158666329	Human	1	name
152122484	CV1521624	single nucleotide variant	NM_024996.7(GFM1):c.2129A>G (p.Lys710Arg)	not provided [RCV002135887]	likely benign	3	158691340	158691340	Human		name
152144736	CV1651723	indel	NM_024996.7(GFM1):c.368-13_368-12delinsAA	not provided [RCV002138645]	likely benign	3	158646730	158646731	Human		name
155670647	CV1771019	single nucleotide variant	NM_024996.7(GFM1):c.1484G>C (p.Gly495Ala)	not provided [RCV002297333]	uncertain significance	3	158665440	158665440	Human		name
155797668	CV1859457	single nucleotide variant	NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002465084]	uncertain significance	3	158684656	158684656	Human	1	name
329954672	CV1860011	single nucleotide variant	NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003233002]	likely pathogenic	3	158691378	158691378	Human	1	name
156263924	CV1869344	single nucleotide variant	NM_024996.7(GFM1):c.2009G>A (p.Arg670Gln)	Inborn genetic diseases [RCV005351082]\|not provided [RCV003060461]	likely benign\|uncertain significance	3	158690262	158690262	Human	1	name
155953692	CV1876511	single nucleotide variant	NM_024996.7(GFM1):c.1601C>T (p.Pro534Leu)	not provided [RCV003074295]	uncertain significance	3	158666386	158666386	Human		name
156395822	CV1877217	single nucleotide variant	NM_024996.7(GFM1):c.2215A>C (p.Thr739Pro)	Inborn genetic diseases [RCV003068579]\|not provided [RCV003068580]	uncertain significance	3	158691426	158691426	Human	1	name
156410515	CV1882558	single nucleotide variant	NM_024996.7(GFM1):c.1577G>A (p.Arg526Gln)	not provided [RCV003072100]	uncertain significance	3	158666362	158666362	Human		name
156188880	CV1882725	single nucleotide variant	NM_024996.7(GFM1):c.1384G>A (p.Asp462Asn)	not provided [RCV003083807]	uncertain significance	3	158665340	158665340	Human		name
156179940	CV1888301	single nucleotide variant	NM_024996.7(GFM1):c.1324G>C (p.Glu442Gln)	not provided [RCV003083523]	uncertain significance	3	158662628	158662628	Human		name
156379120	CV1903255	single nucleotide variant	NM_024996.7(GFM1):c.1199G>A (p.Arg400His)	not provided [RCV003093129]	uncertain significance	3	158659037	158659037	Human		name
8596316	CV19201	single nucleotide variant	NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000004379]	pathogenic	3	158665443	158665443	Human	1	name
156129183	CV1924556	single nucleotide variant	NM_024996.7(GFM1):c.1043A>T (p.Asp348Val)	not provided [RCV002640645]	uncertain significance	3	158654591	158654591	Human		name
156166584	CV1959898	single nucleotide variant	NM_024996.7(GFM1):c.1363A>G (p.Met455Val)	not provided [RCV002573685]	uncertain significance	3	158662667	158662667	Human		name
156253472	CV1993633	single nucleotide variant	NM_024996.7(GFM1):c.2236A>G (p.Lys746Glu)	not provided [RCV002627528]	uncertain significance	3	158691447	158691447	Human		name
155905691	CV2007339	single nucleotide variant	NM_024996.7(GFM1):c.1393A>T (p.Lys465Ter)	not provided [RCV002681379]	pathogenic	3	158665349	158665349	Human		name
156225644	CV2048330	single nucleotide variant	NM_024996.7(GFM1):c.1126G>T (p.Gly376Ter)	not provided [RCV002790803]	pathogenic	3	158658964	158658964	Human		name
156025835	CV2055815	single nucleotide variant	NM_024996.7(GFM1):c.1037G>A (p.Ser346Asn)	not provided [RCV002820841]	uncertain significance	3	158654585	158654585	Human		name
156053177	CV2060143	single nucleotide variant	NM_024996.7(GFM1):c.1914G>T (p.Leu638Phe)	not provided [RCV002796836]	uncertain significance	3	158690167	158690167	Human		name
156087304	CV2095198	single nucleotide variant	NM_024996.7(GFM1):c.1403A>G (p.Lys468Arg)	not provided [RCV002912910]	uncertain significance	3	158665359	158665359	Human		name
10410153	CV210962	single nucleotide variant	NM_024996.7(GFM1):c.1114C>T (p.Arg372Cys)	Inborn genetic diseases [RCV002517220]\|not provided [RCV000197604]	likely pathogenic\|uncertain significance	3	158658952	158658952	Human	1	name
10411325	CV210963	single nucleotide variant	NM_024996.7(GFM1):c.1181G>A (p.Arg394Gln)	not provided [RCV000200029]	likely pathogenic	3	158659019	158659019	Human		name
10409260	CV210965	single nucleotide variant	NM_024996.7(GFM1):c.1369C>T (p.Pro457Ser)	not provided [RCV000195753]\|not specified [RCV004700590]	likely pathogenic\|uncertain significance	3	158662673	158662673	Human		name
10411701	CV210966	single nucleotide variant	NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile)	Inborn genetic diseases [RCV002517219]\|not provided [RCV000488200]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158665413	158665413	Human	1	name
10411633	CV210967	single nucleotide variant	NM_024996.7(GFM1):c.1583C>T (p.Thr528Ile)	not provided [RCV000200666]\|not specified [RCV005406931]	likely pathogenic\|uncertain significance	3	158666368	158666368	Human		name
10409898	CV210970	single nucleotide variant	NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000763507]\|not provided [RCV000197077]	pathogenic\|likely pathogenic	3	158690264	158690264	Human	1	name
10411083	CV210971	single nucleotide variant	NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001835722]\|not provided [RCV000199524]	likely pathogenic\|uncertain significance	3	158691376	158691376	Human	1	name
156153427	CV2131905	single nucleotide variant	NM_024996.7(GFM1):c.1738A>G (p.Lys580Glu)	Inborn genetic diseases [RCV004983247]\|not provided [RCV002982735]	uncertain significance	3	158682131	158682131	Human	1	name
155988721	CV2133390	single nucleotide variant	NM_024996.7(GFM1):c.1294A>G (p.Thr432Ala)	not provided [RCV002996462]	uncertain significance	3	158660946	158660946	Human		name
156202162	CV2134733	single nucleotide variant	NM_024996.7(GFM1):c.1091G>A (p.Arg364Gln)	Inborn genetic diseases [RCV002985257]\|not provided [RCV002985256]	uncertain significance	3	158658929	158658929	Human	1	name
156030614	CV2141992	single nucleotide variant	NM_024996.7(GFM1):c.1585A>G (p.Ile529Val)	Inborn genetic diseases [RCV004632128]\|not provided [RCV002976587]	uncertain significance	3	158666370	158666370	Human	1	name
155994374	CV2156156	single nucleotide variant	NM_024996.7(GFM1):c.1239T>A (p.Tyr413Ter)	not provided [RCV002996717]	pathogenic	3	158660891	158660891	Human		name
156208684	CV2160330	single nucleotide variant	NM_024996.7(GFM1):c.1461G>C (p.Glu487Asp)	not provided [RCV003042248]	uncertain significance	3	158665417	158665417	Human		name
156115049	CV2221372	single nucleotide variant	NM_024996.7(GFM1):c.1046A>G (p.Asn349Ser)	Inborn genetic diseases [RCV002761930]	likely benign	3	158654594	158654594	Human	1	name
156168532	CV2237318	single nucleotide variant	NM_024996.7(GFM1):c.2215A>G (p.Thr739Ala)	Inborn genetic diseases [RCV002787923]	uncertain significance	3	158691426	158691426	Human	1	name
156001284	CV2391881	single nucleotide variant	NM_024996.7(GFM1):c.1201A>G (p.Met401Val)	Inborn genetic diseases [RCV002779416]	uncertain significance	3	158659039	158659039	Human	1	name
156438338	CV2401574	single nucleotide variant	NM_024996.7(GFM1):c.1600C>T (p.Pro534Ser)	not provided [RCV003108278]	uncertain significance	3	158666385	158666385	Human		name
243050202	CV2419584	single nucleotide variant	NM_024996.7(GFM1):c.1213A>G (p.Met405Val)	Inborn genetic diseases [RCV003239327]\|not provided [RCV003156516]	uncertain significance	3	158659051	158659051	Human	1	name
401761232	CV2726685	single nucleotide variant	NM_024996.7(GFM1):c.1684G>C (p.Glu562Gln)	Inborn genetic diseases [RCV003299779]	uncertain significance	3	158682077	158682077	Human	1	name
401726588	CV2736146	single nucleotide variant	NM_024996.7(GFM1):c.1348G>A (p.Val450Ile)	not provided [RCV003312593]	uncertain significance	3	158662652	158662652	Human		name
401883853	CV2764690	single nucleotide variant	NM_024996.7(GFM1):c.1132C>G (p.Leu378Val)	Inborn genetic diseases [RCV003365978]	uncertain significance	3	158658970	158658970	Human	1	name
401925891	CV2798481	single nucleotide variant	NM_024996.7(GFM1):c.2155A>G (p.Arg719Gly)	GFM1-related disorder [RCV003405778]	uncertain significance	3	158691366	158691366	Human		name , trait , alternate_id
401907176	CV2804649	single nucleotide variant	NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter)	GFM1-related disorder [RCV003422468]\|not provided [RCV003720905]	pathogenic\|likely pathogenic	3	158666310	158666310	Human	1	name , trait , alternate_id
401941346	CV2836003	single nucleotide variant	NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461687]	likely pathogenic	3	158665472	158665472	Human	1	name
401943212	CV2836012	single nucleotide variant	NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468269]\|not specified [RCV004587497]	likely pathogenic\|uncertain significance	3	158659031	158659031	Human	1	name
401942885	CV2836036	single nucleotide variant	NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468280]	likely pathogenic	3	158690234	158690234	Human	1	name
404977334	CV2850163	single nucleotide variant	NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003486088]	uncertain significance	3	158665352	158665352	Human	1	name
405219829	CV2870282	single nucleotide variant	NM_024996.7(GFM1):c.2041G>C (p.Val681Leu)	not provided [RCV003553713]	uncertain significance	3	158690294	158690294	Human		name
11595079	CV289271	single nucleotide variant	NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000366352]\|not provided [RCV002520101]	uncertain significance	3	158665362	158665362	Human	1	name
11592746	CV293125	single nucleotide variant	NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly)	GFM1-related disorder [RCV003957777]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000341858]\|not provided [RCV000911472]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	158662647	158662647	Human	1	name , trait , alternate_id
11597558	CV293546	single nucleotide variant	NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr)	Combined oxidative phosphorylation deficiency [RCV000395721]\|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001526738]	uncertain significance	3	158665340	158665340	Human	2	name
11652810	CV293569	single nucleotide variant	NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000306955]	uncertain significance	3	158665341	158665341	Human	1	name
402519193	CV3002366	duplication	NM_024996.7(GFM1):c.1452dup (p.Asp485Ter)	not provided [RCV003690160]	pathogenic	3	158665405	158665406	Human		name
405171379	CV3030188	single nucleotide variant	NM_024996.7(GFM1):c.1536T>A (p.Tyr512Ter)	not provided [RCV003704710]	pathogenic	3	158666321	158666321	Human		name
405786562	CV3258290	single nucleotide variant	NM_024996.7(GFM1):c.1207G>A (p.Ala403Thr)	Inborn genetic diseases [RCV004387794]	uncertain significance	3	158659045	158659045	Human	1	name
405786568	CV3258291	single nucleotide variant	NM_024996.7(GFM1):c.1535A>T (p.Tyr512Phe)	Inborn genetic diseases [RCV004387795]	uncertain significance	3	158666320	158666320	Human	1	name
405868974	CV3400678	single nucleotide variant	NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576681]	likely pathogenic	3	158666333	158666333	Human	1	name
405868978	CV3400680	single nucleotide variant	NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576683]	likely pathogenic	3	158691165	158691165	Human	1	name
407512867	CV3433022	single nucleotide variant	NM_024996.7(GFM1):c.1138A>G (p.Lys380Glu)	Inborn genetic diseases [RCV004626939]	uncertain significance	3	158658976	158658976	Human	1	name
408386794	CV3518546	single nucleotide variant	NM_024996.7(GFM1):c.1848C>A (p.His616Gln)	not provided [RCV004760864]	uncertain significance	3	158684607	158684607	Human		name
408392578	CV3519505	single nucleotide variant	NM_024996.7(GFM1):c.1511A>G (p.Tyr504Cys)	not provided [RCV004763801]	uncertain significance	3	158665467	158665467	Human		name
597679369	CV3688051	single nucleotide variant	NM_024996.7(GFM1):c.1883G>A (p.Arg628Gln)	Inborn genetic diseases [RCV004982468]	uncertain significance	3	158684642	158684642	Human	1	name
597679375	CV3688052	single nucleotide variant	NM_024996.7(GFM1):c.1550T>C (p.Ile517Thr)	Inborn genetic diseases [RCV004982469]	uncertain significance	3	158666335	158666335	Human	1	name
597679379	CV3688053	single nucleotide variant	NM_024996.7(GFM1):c.1967C>T (p.Ala656Val)	Inborn genetic diseases [RCV004982470]	uncertain significance	3	158690220	158690220	Human	1	name
598125443	CV3884003	single nucleotide variant	NM_024996.7(GFM1):c.2118C>A (p.Cys706Ter)	not provided [RCV005236358]	uncertain significance	3	158691186	158691186	Human		name
598250573	CV3967054	single nucleotide variant	NM_024996.7(GFM1):c.1265G>T (p.Gly422Val)	Inborn genetic diseases [RCV005345736]	uncertain significance	3	158660917	158660917	Human	1	name
598220124	CV3967055	single nucleotide variant	NM_024996.7(GFM1):c.2172A>T (p.Leu724Phe)	Inborn genetic diseases [RCV005340400]	uncertain significance	3	158691383	158691383	Human	1	name
598250577	CV3967056	single nucleotide variant	NM_024996.7(GFM1):c.2015A>G (p.His672Arg)	Inborn genetic diseases [RCV005345737]	uncertain significance	3	158690268	158690268	Human	1	name
598220128	CV3967057	single nucleotide variant	NM_024996.7(GFM1):c.1421C>T (p.Thr474Ile)	Inborn genetic diseases [RCV005340401]	uncertain significance	3	158665377	158665377	Human	1	name
616939257	CV4015587	single nucleotide variant	NM_024996.7(GFM1):c.1799C>G (p.Ser600Cys)	not provided [RCV005413099]	uncertain significance	3	158684558	158684558	Human		name
14394181	CV609503	single nucleotide variant	NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001825499]\|not provided [RCV000757328]	uncertain significance	3	158665385	158665385	Human	1	name
21071254	CV790354	single nucleotide variant	NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987348]	uncertain significance	3	158684540	158684540	Human	1	name
21071256	CV790355	single nucleotide variant	NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987349]\|not provided [RCV002550600]	likely pathogenic\|uncertain significance	3	158684581	158684581	Human	1	name
21404285	CV800339	single nucleotide variant	NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002682]	pathogenic	3	158666331	158666331	Human	1	name
21404290	CV800340	single nucleotide variant	NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002684]	pathogenic	3	158666356	158666356	Human	1	name
28912121	CV800341	single nucleotide variant	NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002679]\|not provided [RCV004720762]\|not specified [RCV004689951]	pathogenic\|likely pathogenic\|uncertain significance	3	158690175	158690175	Human	1	name
26900472	CV827646	single nucleotide variant	NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003387961]\|not provided [RCV001067859]	pathogenic\|likely pathogenic	3	158690261	158690261	Human	1	name
28874453	CV888246	single nucleotide variant	NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147219]	uncertain significance	3	158658956	158658956	Human	1	name
28876710	CV888247	single nucleotide variant	NM_024996.7(GFM1):c.1852A>G (p.Met618Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148121]	uncertain significance	3	158684611	158684611	Human	1	name
28876713	CV888248	single nucleotide variant	NM_024996.7(GFM1):c.1948A>G (p.Met650Val)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148122]\|Inborn genetic diseases [RCV002557175]\|not provided [RCV002559421]	uncertain significance	3	158690201	158690201	Human	2	name
38494684	CV953374	single nucleotide variant	NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001836211]\|not provided [RCV001241465]	uncertain significance	3	158659018	158659018	Human	1	name
40906635	CV977820	single nucleotide variant	NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280047]\|not provided [RCV002542941]	uncertain significance	3	158659036	158659036	Human	1	name
401943197	CV2836016	microsatellite	NM_024996.7(GFM1):c.154_155del (p.Ala53fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468270]	likely pathogenic	3	158645699	158645700	Human		name
401941383	CV2836024	duplication	NM_024996.7(GFM1):c.113_116dup (p.Val40fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461700]	likely pathogenic	3	158645659	158645660	Human	1	name
401941384	CV2836026	deletion	NM_024996.7(GFM1):c.114_115del (p.Val40fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461701]\|not provided [RCV003779037]	pathogenic\|likely pathogenic	3	158645661	158645662	Human	1	name
405868971	CV3400677	microsatellite	NM_024996.7(GFM1):c.287_288del (p.Arg96fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576680]	likely pathogenic	3	158646212	158646213	Human		name
14707610	CV631017	deletion	NM_024996.7(GFM1):c.291_292del (p.Gly99fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461170]\|not provided [RCV000807566]	pathogenic\|likely pathogenic	3	158646220	158646221	Human	1	name
38477084	CV931811	deletion	NM_024996.7(GFM1):c.247_248del (p.Asp83fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462686]\|not provided [RCV001204932]	pathogenic\|likely pathogenic	3	158646176	158646177	Human	1	name
12894699	CV406137	duplication	NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003470574]\|not provided [RCV000483794]	pathogenic\|likely pathogenic	3	158645709	158645710	Human	1	name
14705498	CV631018	duplication	NM_024996.7(GFM1):c.401_404dup (p.Arg136fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004569574]\|not provided [RCV000801094]	pathogenic\|likely pathogenic	3	158646775	158646776	Human	1	name
127235758	CV1059670	deletion	NM_024996.7(GFM1):c.1466_1467del (p.Lys489fs)	not provided [RCV001382468]	pathogenic	3	158665421	158665422	Human		name
127261322	CV1059672	deletion	NM_024996.7(GFM1):c.1595_1596del (p.Pro532fs)	not provided [RCV001380497]	pathogenic	3	158666380	158666381	Human		name
151876858	CV1360327	deletion	NM_024996.7(GFM1):c.1096_1099del (p.Gly366fs)	not provided [RCV001907173]	pathogenic	3	158658934	158658937	Human		name
151760709	CV1380161	microsatellite	NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471167]\|See cases [RCV002252739]\|not provided [RCV001970149]	pathogenic\|likely pathogenic	3	158666313	158666314	Human		name
151768934	CV1486430	microsatellite	NM_024996.7(GFM1):c.1874_1875del (p.Ser625fs)	not provided [RCV001914793]	pathogenic	3	158684630	158684631	Human		name
156112906	CV2093031	deletion	NM_024996.7(GFM1):c.1474_1480del (p.Val492fs)	not provided [RCV002913854]	pathogenic	3	158665430	158665436	Human		name
156297112	CV2159190	microsatellite	NM_024996.7(GFM1):c.1470_1471del (p.Glu490fs)	not provided [RCV003045382]	pathogenic	3	158665423	158665424	Human		name
401941345	CV2836002	deletion	NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461686]	likely pathogenic	3	158684662	158684665	Human	1	name
401941348	CV2836005	deletion	NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461689]	likely pathogenic	3	158654591	158654603	Human	1	name
597683384	CV3720940	deletion	NM_024996.7(GFM1):c.1527_1530del (p.Arg510fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV005031320]	likely pathogenic	3	158666310	158666313	Human	1	name
21404275	CV800337	deletion	NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002676]\|not provided [RCV001384808]	pathogenic	3	158660946	158660949	Human	1	name
26884710	CV827645	duplication	NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462551]\|not provided [RCV001052419]	pathogenic\|likely pathogenic	3	158660906	158660907	Human	1	name
156004765	CV2166703	insertion	NM_024996.7(GFM1):c.1623_1624insG (p.Gln542fs)	not provided [RCV003017440]	pathogenic	3	158682016	158682017	Human		name
151726209	CV1438135	insertion	NM_024996.7(GFM1):c.1167_1168insTT (p.Arg390fs)	not provided [RCV001891750]	pathogenic	3	158659005	158659006	Human		name
402489922	CV2866608	indel	NM_024996.7(GFM1):c.841-168_844delinsCTTTCTTCTT	not provided [RCV003572911]	likely pathogenic	3	158653142	158653313	Human		name
405088719	CV3024922	insertion	NM_024996.7(GFM1):c.1026_1027insCC (p.Met343fs)	not provided [RCV003699507]	pathogenic	3	158654574	158654575	Human		name
156442417	CV1938645	deletion	NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003459779]\|not provided [RCV003112759]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	158645661	158645661	Human	1	name
401941380	CV2836018	indel	NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461697]	likely pathogenic	3	158646292	158646297	Human		name
597946722	CV3817756	deletion	NM_024996.7(GFM1):c.929del (p.Leu309_Leu310insTer)	not provided [RCV005160222]	pathogenic	3	158653395	158653395	Human		name
151738114	CV1458162	deletion	NM_024996.7(GFM1):c.2064del (p.Leu687_Tyr688insTer)	not provided [RCV001946822]	pathogenic	3	158690317	158690317	Human		name
21404283	CV800336	deletion	NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002681]	pathogenic\|likely pathogenic	3	158658983	158658994	Human	1	name
38467025	CV953373	indel	NM_024996.7(GFM1):c.735_747delinsTTAATTAATTAG (p.Ala246_His249delinsTer)	not provided [RCV001247772]	pathogenic	3	158652141	158652153	Human		name

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