Tufm Variant Search Result - Rat Genome Database

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206 records found for search term Tufm

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8691597	CV141564	single nucleotide variant	NM_003321.5(TUFM):c.-34C>T	not specified [RCV000126187]	benign	16	28846303	28846303	Human		name
11620485	CV324922	single nucleotide variant	NM_003321.5(TUFM):c.*37G>A	Combined oxidative phosphorylation defect type 4 [RCV000337371]	uncertain significance	16	28842938	28842938	Human	1	name
11626060	CV324925	single nucleotide variant	NM_003321.5(TUFM):c.*24C>T	Combined oxidative phosphorylation defect type 4 [RCV000405752]\|not provided [RCV001597083]	benign\|likely benign	16	28842951	28842951	Human	1	name
11621216	CV334560	single nucleotide variant	NM_003321.4(TUFM):c.-81G>C	Combined oxidative phosphorylation deficiency [RCV000345728]	uncertain significance	16	28846350	28846350	Human	1	name
11649042	CV341108	single nucleotide variant	NM_003321.5(TUFM):c.-37C>T	Combined oxidative phosphorylation defect type 4 [RCV000284984]	uncertain significance	16	28846306	28846306	Human	1	name
11620703	CV341112	single nucleotide variant	NM_003321.5(TUFM):c.-44G>T	Combined oxidative phosphorylation defect type 4 [RCV000339877]	uncertain significance	16	28846313	28846313	Human	1	name
11617494	CV342632	single nucleotide variant	NM_003321.5(TUFM):c.-55T>C	Combined oxidative phosphorylation defect type 4 [RCV000304891]\|not provided [RCV001597084]	benign	16	28846324	28846324	Human	2	name
12838619	CV375342	single nucleotide variant	NM_003321.5(TUFM):c.-11G>A	not specified [RCV000427296]	likely benign	16	28846280	28846280	Human		name
13592673	CV506295	single nucleotide variant	NM_003321.5(TUFM):c.-22C>A	not specified [RCV000606860]	likely benign	16	28846291	28846291	Human		name
28891883	CV875062	single nucleotide variant	NM_003321.5(TUFM):c.*60T>G	Combined oxidative phosphorylation defect type 4 [RCV001121141]	uncertain significance	16	28842915	28842915	Human	1	name
28876596	CV875072	single nucleotide variant	NM_003321.5(TUFM):c.-61C>T	Combined oxidative phosphorylation defect type 4 [RCV001116330]	uncertain significance	16	28846330	28846330	Human	1	name
155909205	CV2077784	single nucleotide variant	NM_003321.5(TUFM):c.53-8C>T	not provided [RCV002858355]	likely benign	16	28846114	28846114	Human		name
11619128	CV324910	single nucleotide variant	NM_003321.5(TUFM):c.*561A>T	Combined oxidative phosphorylation defect type 4 [RCV000321980]\|not provided [RCV003221914]	likely benign\|uncertain significance	16	28842414	28842414	Human	1	name
11624155	CV324911	single nucleotide variant	NM_003321.5(TUFM):c.*370T>G	Combined oxidative phosphorylation defect type 4 [RCV000382281]	uncertain significance	16	28842605	28842605	Human	1	name
11619443	CV334519	single nucleotide variant	NM_003321.5(TUFM):c.*398G>A	Combined oxidative phosphorylation defect type 4 [RCV000325372]	uncertain significance	16	28842577	28842577	Human	1	name
11616442	CV334522	single nucleotide variant	NM_003321.5(TUFM):c.*349G>A	Combined oxidative phosphorylation defect type 4 [RCV000294847]	uncertain significance	16	28842626	28842626	Human	1	name
11616308	CV334524	single nucleotide variant	NM_003321.5(TUFM):c.*110A>G	Combined oxidative phosphorylation defect type 4 [RCV000293718]	uncertain significance	16	28842865	28842865	Human	1	name
11625961	CV334562	single nucleotide variant	NM_003321.4(TUFM):c.-128G>C	Combined oxidative phosphorylation deficiency [RCV000404830]	uncertain significance	16	28846397	28846397	Human	1	name
11618078	CV334578	single nucleotide variant	NM_003321.4(TUFM):c.-132G>A	Combined oxidative phosphorylation deficiency [RCV000310509]\|not provided [RCV001653560]	benign\|likely benign	16	28846401	28846401	Human	1	name
11621740	CV341082	single nucleotide variant	NM_003321.5(TUFM):c.*300T>G	Combined oxidative phosphorylation defect type 4 [RCV000352107]\|not provided [RCV001690060]	benign	16	28842675	28842675	Human	3	name
11621740	CV341082	single nucleotide variant	NM_003321.5(TUFM):c.*300T>G	Combined oxidative phosphorylation defect type 4 [RCV000352107]\|not provided [RCV001690060]	benign	16	28842675	28842676	Human	3	name
11662135	CV342622	single nucleotide variant	NM_003321.5(TUFM):c.*517G>C	Combined oxidative phosphorylation defect type 4 [RCV000383001]	uncertain significance	16	28842458	28842458	Human	1	name
11616104	CV342623	single nucleotide variant	NM_003321.5(TUFM):c.*445G>A	Combined oxidative phosphorylation defect type 4 [RCV000291490]	uncertain significance	16	28842530	28842530	Human	1	name
11664565	CV342627	single nucleotide variant	NM_003321.5(TUFM):c.*149G>C	Combined oxidative phosphorylation defect type 4 [RCV000406763]	uncertain significance	16	28842826	28842826	Human	1	name
598158471	CV3896737	single nucleotide variant	NM_003321.5(TUFM):c.53-1G>C	Mitochondrial disease [RCV005367866]	uncertain significance	16	28846107	28846107	Human	1	name
28885746	CV875059	single nucleotide variant	NM_003321.5(TUFM):c.*433T>C	Combined oxidative phosphorylation defect type 4 [RCV001119149]	uncertain significance	16	28842542	28842542	Human	1	name
28885749	CV875060	single nucleotide variant	NM_003321.5(TUFM):c.*270C>T	Combined oxidative phosphorylation defect type 4 [RCV001119150]	uncertain significance	16	28842705	28842705	Human	1	name
28891880	CV875061	single nucleotide variant	NM_003321.5(TUFM):c.*229G>A	Combined oxidative phosphorylation defect type 4 [RCV001121140]	uncertain significance	16	28842746	28842746	Human	1	name
150420218	CV1195054	single nucleotide variant	NM_003321.5(TUFM):c.53-11G>C	not provided [RCV001570022]	likely benign	16	28846117	28846117	Human		name
8691595	CV141562	single nucleotide variant	NM_003321.5(TUFM):c.520-8A>T	Combined oxidative phosphorylation defect type 4 [RCV001001590]\|TUFM-related disorder [RCV003952658]\|not provided [RCV000907699]\|not specified [RCV000126185]	benign\|likely benign	16	28844870	28844870	Human	1	name , trait , alternate_id
8691596	CV141563	single nucleotide variant	NM_003321.5(TUFM):c.684+6C>T	Combined oxidative phosphorylation defect type 4 [RCV001117670]\|not provided [RCV000894222]\|not specified [RCV000126186]	benign\|likely benign	16	28844692	28844692	Human	1	name
152117251	CV1541117	single nucleotide variant	NM_003321.5(TUFM):c.53-16G>A	not provided [RCV002197558]	likely benign	16	28846122	28846122	Human		name
156437450	CV1947526	single nucleotide variant	NM_003321.5(TUFM):c.415-9C>T	not provided [RCV003106988]	likely benign	16	28845064	28845064	Human		name
156346333	CV1958211	single nucleotide variant	NM_003321.5(TUFM):c.248-9C>T	not provided [RCV002580780]	likely benign	16	28845489	28845489	Human		name
156398808	CV1982060	single nucleotide variant	NM_003321.5(TUFM):c.520-4A>C	not provided [RCV002635772]	likely benign	16	28844866	28844866	Human		name
156239437	CV1992488	single nucleotide variant	NM_003321.5(TUFM):c.520-3C>T	not provided [RCV002627079]	uncertain significance	16	28844865	28844865	Human		name
156032524	CV2029842	single nucleotide variant	NM_003321.5(TUFM):c.414+6G>C	not provided [RCV002735865]	uncertain significance	16	28845308	28845308	Human		name
156234566	CV2036330	single nucleotide variant	NM_003321.5(TUFM):c.922+7G>A	not provided [RCV002805447]	likely benign	16	28844223	28844223	Human		name
156006112	CV2126579	deletion	NM_003321.5(TUFM):c.818-3del	not provided [RCV002975409]	likely benign	16	28844337	28844337	Human		name
11617591	CV341084	single nucleotide variant	NM_003321.5(TUFM):c.923-9C>A	Combined oxidative phosphorylation defect type 4 [RCV000305885]	uncertain significance	16	28844110	28844110	Human	1	name
11613605	CV342629	single nucleotide variant	NM_003321.5(TUFM):c.684+8C>T	Combined oxidative phosphorylation defect type 4 [RCV000269663]\|not provided [RCV002056484]\|not specified [RCV000608149]	benign\|likely benign\|uncertain significance	16	28844690	28844690	Human	1	name
597942318	CV3779887	single nucleotide variant	NM_003321.5(TUFM):c.685-5A>G	not provided [RCV005118896]	likely benign	16	28844556	28844556	Human		name
13533044	CV505551	single nucleotide variant	NM_003321.5(TUFM):c.922+8A>G	Combined oxidative phosphorylation defect type 4 [RCV001116227]\|not provided [RCV005091739]\|not specified [RCV000606982]	likely benign\|uncertain significance	16	28844222	28844222	Human	1	name
13536276	CV505752	single nucleotide variant	NM_003321.5(TUFM):c.684+9G>A	not provided [RCV002065420]\|not specified [RCV000608765]	likely benign	16	28844689	28844689	Human		name
13790203	CV550036	single nucleotide variant	NM_003321.5(TUFM):c.923-7G>A	TUFM-related disorder [RCV003945706]\|not provided [RCV000677081]	likely benign	16	28844108	28844108	Human	1	name , trait , alternate_id
14710073	CV668295	single nucleotide variant	NM_003321.5(TUFM):c.415-6C>G	not provided [RCV000827602]	likely benign	16	28845061	28845061	Human		name
127294509	CV1157676	single nucleotide variant	NM_003321.5(TUFM):c.248-18G>A	Combined oxidative phosphorylation defect type 4 [RCV002243262]\|not provided [RCV001511769]	benign	16	28845498	28845498	Human	1	name
150408267	CV1177986	single nucleotide variant	NM_003321.5(TUFM):c.685-32G>T	not provided [RCV001545834]	likely benign	16	28844583	28844583	Human		name
150426679	CV1188351	single nucleotide variant	NM_003321.5(TUFM):c.519+32G>A	not provided [RCV001559883]	likely benign	16	28844919	28844919	Human		name
150506851	CV1211026	single nucleotide variant	NM_003321.5(TUFM):c.922+54G>A	not provided [RCV001596144]	likely benign	16	28844176	28844176	Human		name
150466974	CV1255829	single nucleotide variant	NM_003321.5(TUFM):c.922+29C>G	Combined oxidative phosphorylation defect type 4 [RCV002243399]\|not provided [RCV001670463]	benign	16	28844201	28844201	Human	1	name
152158375	CV1529021	single nucleotide variant	NM_003321.5(TUFM):c.415-20C>T	not provided [RCV002159186]	likely benign	16	28845075	28845075	Human		name
152089932	CV1535755	single nucleotide variant	NM_003321.5(TUFM):c.247+17C>T	not provided [RCV002150459]	likely benign	16	28845895	28845895	Human		name
152071871	CV1643611	single nucleotide variant	NM_003321.5(TUFM):c.923-15C>T	not provided [RCV002111560]	likely benign	16	28844116	28844116	Human		name
155970533	CV2139705	single nucleotide variant	NM_003321.5(TUFM):c.818-17G>A	not provided [RCV002995602]	likely benign	16	28844351	28844351	Human		name
404988845	CV2998606	single nucleotide variant	NM_003321.5(TUFM):c.922+12C>T	not provided [RCV003692094]	likely benign	16	28844218	28844218	Human		name
405172637	CV3150386	single nucleotide variant	NM_003321.5(TUFM):c.414+18A>G	not provided [RCV003841660]	likely benign	16	28845296	28845296	Human		name
11622002	CV324927	single nucleotide variant	NM_003321.5(TUFM):c.1195-3T>C	Combined oxidative phosphorylation deficiency [RCV000354885]\|not provided [RCV001582957]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	28843151	28843151	Human	1	name
11626203	CV324935	microsatellite	NM_003321.5(TUFM):c.-57TCT[2]	Combined oxidative phosphorylation deficiency [RCV000408228]\|not provided [RCV001590947]	likely benign\|uncertain significance	16	28846318	28846320	Human		name
11619914	CV334538	single nucleotide variant	NM_003321.5(TUFM):c.519+15G>A	Combined oxidative phosphorylation defect type 4 [RCV000330713]\|not specified [RCV000431997]	likely benign\|uncertain significance	16	28844936	28844936	Human	1	name
11613189	CV341086	single nucleotide variant	NM_003321.5(TUFM):c.817+13T>C	Combined oxidative phosphorylation defect type 4 [RCV000265919]\|not provided [RCV001522443]	benign	16	28844406	28844406	Human	5	name
11613189	CV341086	single nucleotide variant	NM_003321.5(TUFM):c.817+13T>C	Combined oxidative phosphorylation defect type 4 [RCV000265919]\|not provided [RCV001522443]	benign	16	28844406	28844407	Human	5	name
11614746	CV341101	single nucleotide variant	NM_003321.5(TUFM):c.248-13T>G	Combined oxidative phosphorylation defect type 4 [RCV000279188]	uncertain significance	16	28845493	28845493	Human	1	name
11614546	CV342631	single nucleotide variant	NM_003321.5(TUFM):c.520-13C>G	Combined oxidative phosphorylation defect type 4 [RCV000277966]\|TUFM-related disorder [RCV003910210]\|not provided [RCV001705476]	benign\|likely benign\|uncertain significance	16	28844875	28844875	Human	1	name , trait , alternate_id
12842892	CV375040	single nucleotide variant	NM_003321.5(TUFM):c.922+16C>T	not provided [RCV002524846]\|not specified [RCV000435224]	benign	16	28844214	28844214	Human		name
12842021	CV375339	single nucleotide variant	NM_003321.5(TUFM):c.817+16G>C	not specified [RCV000433651]	likely benign	16	28844403	28844403	Human		name
597858010	CV3755791	single nucleotide variant	NM_003321.5(TUFM):c.415-15C>T	not provided [RCV005088942]	likely benign	16	28845070	28845070	Human		name
13528163	CV505338	single nucleotide variant	NM_003321.5(TUFM):c.817+19C>G	not specified [RCV000599984]	likely benign	16	28844400	28844400	Human		name
15115057	CV760475	single nucleotide variant	NM_003321.5(TUFM):c.1074+9T>G	not provided [RCV000917389]	likely benign	16	28843941	28843941	Human		name
28886102	CV876649	single nucleotide variant	NM_003321.5(TUFM):c.519+14G>C	Combined oxidative phosphorylation defect type 4 [RCV001119243]	uncertain significance	16	28844937	28844937	Human	1	name
150425710	CV1185094	single nucleotide variant	NM_003321.5(TUFM):c.1195-26G>A	not provided [RCV001558367]	likely benign	16	28843174	28843174	Human		name
152038582	CV1524199	single nucleotide variant	NM_003321.5(TUFM):c.1074+19G>A	not provided [RCV002125741]	likely benign	16	28843931	28843931	Human		name
152125636	CV1646210	single nucleotide variant	NM_003321.5(TUFM):c.1194+17G>A	not provided [RCV002217364]	likely benign	16	28843719	28843719	Human		name
156415700	CV1966191	single nucleotide variant	NM_003321.5(TUFM):c.1074+18C>T	not provided [RCV002589316]	likely benign	16	28843932	28843932	Human		name
156367210	CV2010844	single nucleotide variant	NM_003321.5(TUFM):c.1194+20T>G	not provided [RCV002676646]	likely benign	16	28843716	28843716	Human		name
15106355	CV776185	single nucleotide variant	NM_003321.5(TUFM):c.1195-10C>G	not provided [RCV000937764]	likely benign	16	28843158	28843158	Human		name
14705672	CV668291	single nucleotide variant	NM_003321.5(TUFM):c.1194+288T>C	not provided [RCV000826269]	benign	16	28843448	28843448	Human		name
12905550	CV413437	single nucleotide variant	NM_003321.5(TUFM):c.6C>T (p.Thr2=)	Combined oxidative phosphorylation defect type 4 [RCV001121249]\|TUFM-related disorder [RCV003942602]\|not provided [RCV000487652]	likely benign\|uncertain significance	16	28846264	28846264	Human	1	name , trait , alternate_id
156396176	CV1985167	single nucleotide variant	NM_003321.5(TUFM):c.18C>T (p.Ala6=)	not provided [RCV002635502]	likely benign	16	28846252	28846252	Human		name
151754769	CV1391416	single nucleotide variant	NM_003321.5(TUFM):c.51C>T (p.Ser17=)	not provided [RCV001969558]	uncertain significance	16	28846219	28846219	Human		name
11623600	CV334559	single nucleotide variant	NM_003321.5(TUFM):c.1A>G (p.Met1Val)	Combined oxidative phosphorylation defect type 4 [RCV000374768]	uncertain significance	16	28846269	28846269	Human	1	name
13527889	CV505753	single nucleotide variant	NM_003321.5(TUFM):c.72C>T (p.Thr24=)	not provided [RCV000915353]	benign\|likely benign	16	28846087	28846087	Human		name
15133368	CV785248	single nucleotide variant	NM_003321.5(TUFM):c.81G>T (p.Leu27=)	not provided [RCV000981541]	likely benign	16	28846078	28846078	Human		name
8691598	CV141565	single nucleotide variant	NM_003321.5(TUFM):c.198C>T (p.Ile66=)	Combined oxidative phosphorylation defect type 4 [RCV001001526]\|not provided [RCV001517470]\|not specified [RCV000126188]	benign\|likely benign	16	28845961	28845961	Human	2	name
8691598	CV141565	single nucleotide variant	NM_003321.5(TUFM):c.198C>T (p.Ile66=)	Combined oxidative phosphorylation defect type 4 [RCV001001526]\|not provided [RCV001517470]\|not specified [RCV000126188]	benign\|likely benign	16	28845961	28845962	Human	2	name
152036333	CV1537001	single nucleotide variant	NM_003321.5(TUFM):c.108C>T (p.Ala36=)	not provided [RCV002205643]	likely benign	16	28846051	28846051	Human		name
156049206	CV1927251	single nucleotide variant	NM_003321.5(TUFM):c.17C>T (p.Ala6Val)	Inborn genetic diseases [RCV004676166]\|not provided [RCV002637875]	uncertain significance	16	28846253	28846253	Human	1	name
156224552	CV1981501	single nucleotide variant	NM_003321.5(TUFM):c.19G>A (p.Ala7Thr)	not provided [RCV002626570]	uncertain significance	16	28846251	28846251	Human		name
10411434	CV211718	single nucleotide variant	NM_003321.5(TUFM):c.20C>T (p.Ala7Val)	not specified [RCV000200255]	likely benign	16	28846250	28846250	Human		name
28892175	CV875071	single nucleotide variant	NM_003321.5(TUFM):c.12G>T (p.Met4Ile)	Combined oxidative phosphorylation defect type 4 [RCV001121248]	uncertain significance	16	28846258	28846258	Human	1	name
150420278	CV1198759	single nucleotide variant	NM_003321.5(TUFM):c.873C>T (p.Asp291=)	not provided [RCV001577540]	likely benign	16	28844279	28844279	Human		name
150548501	CV1316376	single nucleotide variant	NM_003321.5(TUFM):c.981C>G (p.Ala327=)	TUFM-related disorder [RCV003956373]\|not provided [RCV001786178]	likely benign	16	28844043	28844043	Human	1	name , trait , alternate_id
151851960	CV1358502	single nucleotide variant	NM_003321.5(TUFM):c.64G>A (p.Gly22Ser)	TUFM-related disorder [RCV003958434]\|not provided [RCV001979063]	likely benign\|uncertain significance	16	28846095	28846095	Human	1	name , trait , alternate_id
152105677	CV1572586	single nucleotide variant	NM_003321.5(TUFM):c.393G>A (p.Pro131=)	not provided [RCV002152366]	likely benign	16	28845335	28845335	Human		name
152069315	CV1589182	single nucleotide variant	NM_003321.5(TUFM):c.984G>C (p.Leu328=)	not provided [RCV002209772]	likely benign	16	28844040	28844040	Human		name
152171985	CV1597931	single nucleotide variant	NM_003321.5(TUFM):c.399T>C (p.His133=)	not provided [RCV002162298]	likely benign	16	28845329	28845329	Human		name
152074398	CV1635242	single nucleotide variant	NM_003321.5(TUFM):c.468C>G (p.Ala156=)	not provided [RCV002092028]	likely benign	16	28845002	28845002	Human		name
156377811	CV1906732	single nucleotide variant	NM_003321.5(TUFM):c.534T>C (p.His178=)	not provided [RCV003093019]	likely benign	16	28844848	28844848	Human		name
156440479	CV1943529	single nucleotide variant	NM_003321.5(TUFM):c.912T>C (p.Thr304=)	not provided [RCV003110514]	likely benign	16	28844240	28844240	Human		name
156365588	CV2010706	single nucleotide variant	NM_003321.5(TUFM):c.513C>T (p.Ala171=)	not provided [RCV002676538]	likely benign	16	28844957	28844957	Human		name
156313128	CV2079055	single nucleotide variant	NM_003321.5(TUFM):c.378C>T (p.Ala126=)	not provided [RCV002898833]	likely benign	16	28845350	28845350	Human		name
156242116	CV2086026	single nucleotide variant	NM_003321.5(TUFM):c.354T>C (p.Tyr118=)	not provided [RCV002876633]	likely benign	16	28845374	28845374	Human		name
10410898	CV211717	single nucleotide variant	NM_003321.5(TUFM):c.35C>G (p.Ala12Gly)	Combined oxidative phosphorylation defect type 4 [RCV001121247]\|Inborn genetic diseases [RCV004020432]\|not provided [RCV000199129]	uncertain significance	16	28846235	28846235	Human	2	name
156323193	CV2134302	single nucleotide variant	NM_003321.5(TUFM):c.561C>T (p.Asp187=)	not provided [RCV002963349]	likely benign	16	28844821	28844821	Human		name
156247963	CV2145691	single nucleotide variant	NM_003321.5(TUFM):c.45C>G (p.His15Gln)	not provided [RCV003008339]	uncertain significance	16	28846225	28846225	Human		name
405216058	CV3143344	single nucleotide variant	NM_003321.5(TUFM):c.706C>T (p.Leu236=)	not provided [RCV003846508]	likely benign	16	28844530	28844530	Human		name
11625907	CV324929	single nucleotide variant	NM_003321.5(TUFM):c.975C>T (p.Leu325=)	Combined oxidative phosphorylation defect type 4 [RCV000404354]\|not provided [RCV002521006]	likely benign\|uncertain significance	16	28844049	28844049	Human	1	name
11622962	CV324931	single nucleotide variant	NM_003321.5(TUFM):c.759C>T (p.Pro253=)	Combined oxidative phosphorylation defect type 4 [RCV000366601]\|TUFM-related disorder [RCV003983015]\|not provided [RCV000895342]	likely benign\|uncertain significance	16	28844477	28844477	Human	1	name , trait , alternate_id
11622284	CV334530	single nucleotide variant	NM_003321.5(TUFM):c.894T>C (p.His298=)	Combined oxidative phosphorylation defect type 4 [RCV000358295]\|not provided [RCV003718183]	likely benign\|uncertain significance	16	28844258	28844258	Human	1	name
405809395	CV3348021	single nucleotide variant	NM_003321.5(TUFM):c.77T>C (p.Leu26Pro)	Inborn genetic diseases [RCV004481716]\|not provided [RCV005220902]	uncertain significance	16	28846082	28846082	Human	1	name
597635434	CV3628643	single nucleotide variant	NM_003321.5(TUFM):c.93G>T (p.Leu31Phe)	Inborn genetic diseases [RCV004969639]	uncertain significance	16	28846066	28846066	Human	1	name
597861725	CV3745113	single nucleotide variant	NM_003321.5(TUFM):c.828C>T (p.Thr276=)	not provided [RCV005067469]	likely benign	16	28844324	28844324	Human		name
12839525	CV375042	single nucleotide variant	NM_003321.5(TUFM):c.558T>C (p.Ala186=)	Combined oxidative phosphorylation defect type 4 [RCV001119242]\|not provided [RCV002061630]\|not specified [RCV000428974]	likely benign\|uncertain significance	16	28844824	28844824	Human	1	name
597891975	CV3809753	single nucleotide variant	NM_003321.5(TUFM):c.375C>T (p.Tyr125=)	not provided [RCV005151473]	likely benign	16	28845353	28845353	Human		name
13533603	CV505334	single nucleotide variant	NM_003321.5(TUFM):c.963C>T (p.Ala321=)	not provided [RCV002066785]\|not specified [RCV000601712]	likely benign	16	28844061	28844061	Human		name
13540447	CV505336	single nucleotide variant	NM_003321.5(TUFM):c.909C>T (p.Arg303=)	TUFM-related disorder [RCV003927967]\|not provided [RCV001722621]	likely benign	16	28844243	28844243	Human	1	name , trait , alternate_id
15135791	CV755070	single nucleotide variant	NM_003321.5(TUFM):c.996G>A (p.Leu332=)	not provided [RCV000920907]	likely benign	16	28844028	28844028	Human		name
15183909	CV770830	single nucleotide variant	NM_003321.5(TUFM):c.598C>T (p.Leu200=)	not provided [RCV000930691]	likely benign	16	28844784	28844784	Human		name
28876265	CV875063	single nucleotide variant	NM_003321.5(TUFM):c.825C>G (p.Gly275=)	Combined oxidative phosphorylation defect type 4 [RCV001116228]	uncertain significance	16	28844327	28844327	Human	1	name
28876268	CV875064	single nucleotide variant	NM_003321.5(TUFM):c.810C>T (p.Ser270=)	Combined oxidative phosphorylation defect type 4 [RCV001116229]	uncertain significance	16	28844426	28844426	Human	1	name
126729334	CV1021437	single nucleotide variant	NM_003321.5(TUFM):c.100C>G (p.Leu34Val)	Combined oxidative phosphorylation defect type 4 [RCV001333117]	uncertain significance	16	28846059	28846059	Human	1	name
150336224	CV1166174	single nucleotide variant	NM_003321.5(TUFM):c.1308C>T (p.Thr436=)	not provided [RCV001531850]	likely benign	16	28843035	28843035	Human		name
151859119	CV1403469	single nucleotide variant	NM_003321.5(TUFM):c.142G>A (p.Val48Met)	not provided [RCV001979894]	uncertain significance	16	28846017	28846017	Human		name
151782676	CV1422319	single nucleotide variant	NM_003321.5(TUFM):c.113C>T (p.Ala38Val)	not provided [RCV001972223]	uncertain significance	16	28846046	28846046	Human		name
151806214	CV1440787	single nucleotide variant	NM_003321.5(TUFM):c.101T>A (p.Leu34Gln)	not provided [RCV001932761]	uncertain significance	16	28846058	28846058	Human		name
151764349	CV1478393	single nucleotide variant	NM_003321.5(TUFM):c.140C>T (p.Ala47Val)	not provided [RCV002008227]	uncertain significance	16	28846019	28846019	Human		name
152075850	CV1653062	single nucleotide variant	NM_003321.5(TUFM):c.1012C>A (p.Arg338=)	not provided [RCV002148684]	likely benign	16	28844012	28844012	Human		name
156183443	CV1884805	single nucleotide variant	NM_003321.5(TUFM):c.1122G>A (p.Val374=)	not provided [RCV003083637]	likely benign	16	28843808	28843808	Human		name
156121620	CV2020794	single nucleotide variant	NM_003321.5(TUFM):c.1230C>T (p.Asn410=)	not provided [RCV002740220]	likely benign	16	28843113	28843113	Human		name
10409264	CV211716	single nucleotide variant	NM_003321.5(TUFM):c.117G>C (p.Leu39Phe)	Inborn genetic diseases [RCV003343698]\|not provided [RCV000195760]	likely benign\|uncertain significance	16	28846042	28846042	Human	1	name
156118380	CV2150703	single nucleotide variant	NM_003321.5(TUFM):c.121C>T (p.Leu41Phe)	not provided [RCV003021697]	uncertain significance	16	28846038	28846038	Human		name
156135943	CV2165647	single nucleotide variant	NM_003321.5(TUFM):c.181G>C (p.Val61Leu)	not provided [RCV003022351]	uncertain significance	16	28845978	28845978	Human		name
155992444	CV2379313	single nucleotide variant	NM_003321.5(TUFM):c.107C>T (p.Ala36Val)	Inborn genetic diseases [RCV002689332]	uncertain significance	16	28846052	28846052	Human	1	name
405206164	CV3154612	single nucleotide variant	NM_003321.5(TUFM):c.1284A>C (p.Arg428=)	not provided [RCV003845122]	likely benign	16	28843059	28843059	Human		name
12841586	CV375038	single nucleotide variant	NM_003321.5(TUFM):c.1242G>A (p.Arg414=)	not provided [RCV003766331]\|not specified [RCV000432838]	likely benign	16	28843101	28843101	Human		name
597960937	CV3753151	single nucleotide variant	NM_003321.5(TUFM):c.1237T>C (p.Leu413=)	not provided [RCV005081651]	likely benign	16	28843106	28843106	Human		name
597905943	CV3785132	duplication	NM_003321.5(TUFM):c.722dup (p.Leu242fs)	not provided [RCV005127975]	pathogenic	16	28844513	28844514	Human		name
597890893	CV3805032	single nucleotide variant	NM_003321.5(TUFM):c.1083C>T (p.Ile361=)	not provided [RCV005151294]	likely benign	16	28843847	28843847	Human		name
15138493	CV755069	single nucleotide variant	NM_003321.5(TUFM):c.1209C>T (p.Pro403=)	not provided [RCV000921343]	likely benign	16	28843134	28843134	Human		name
15099435	CV785247	single nucleotide variant	NM_003321.5(TUFM):c.1215G>A (p.Glu405=)	not provided [RCV000975257]	likely benign	16	28843128	28843128	Human		name
28892170	CV875070	single nucleotide variant	NM_003321.5(TUFM):c.166C>G (p.Arg56Gly)	Combined oxidative phosphorylation defect type 4 [RCV001121246]\|Inborn genetic diseases [RCV004678963]	uncertain significance	16	28845993	28845993	Human	2	name
126741367	CV1018073	single nucleotide variant	NM_003321.5(TUFM):c.562G>A (p.Ala188Thr)	Combined oxidative phosphorylation defect type 4 [RCV001329676]	uncertain significance	16	28844820	28844820	Human	1	name
150529954	CV1293286	single nucleotide variant	NM_003321.5(TUFM):c.820C>T (p.Arg274Cys)	not provided [RCV001756506]	uncertain significance	16	28844332	28844332	Human		name
151843047	CV1357832	single nucleotide variant	NM_003321.5(TUFM):c.940A>G (p.Lys314Glu)	not provided [RCV001881593]	uncertain significance	16	28844084	28844084	Human		name
151750778	CV1359146	single nucleotide variant	NM_003321.5(TUFM):c.732T>G (p.Asp244Glu)	not provided [RCV001969168]	uncertain significance	16	28844504	28844504	Human		name
151741748	CV1390736	single nucleotide variant	NM_003321.5(TUFM):c.574T>C (p.Ser192Pro)	not provided [RCV001985300]	uncertain significance	16	28844808	28844808	Human		name
151786627	CV1395605	single nucleotide variant	NM_003321.5(TUFM):c.338C>T (p.Ala113Val)	not provided [RCV002010255]	uncertain significance	16	28845390	28845390	Human		name
151859128	CV1422862	single nucleotide variant	NM_003321.5(TUFM):c.376G>A (p.Ala126Thr)	not provided [RCV001923777]	uncertain significance	16	28845352	28845352	Human		name
155643999	CV1708318	single nucleotide variant	NM_003321.5(TUFM):c.502T>A (p.Leu168Ile)	Combined oxidative phosphorylation defect type 4 [RCV002290307]	uncertain significance	16	28844968	28844968	Human	1	name
155644996	CV1710512	single nucleotide variant	NM_003321.5(TUFM):c.374A>G (p.Tyr125Cys)	not provided [RCV002293808]	uncertain significance	16	28845354	28845354	Human		name
156383590	CV1961049	single nucleotide variant	NM_003321.5(TUFM):c.811G>A (p.Val271Ile)	not provided [RCV002583337]	uncertain significance	16	28844425	28844425	Human		name
156340850	CV1961697	single nucleotide variant	NM_003321.5(TUFM):c.688C>T (p.Arg230Trp)	not provided [RCV002580497]	uncertain significance	16	28844548	28844548	Human		name
156090554	CV1994296	single nucleotide variant	NM_003321.5(TUFM):c.409G>A (p.Val137Ile)	not provided [RCV002639204]	uncertain significance	16	28845319	28845319	Human		name
156120691	CV2004166	single nucleotide variant	NM_003321.5(TUFM):c.906C>G (p.Ile302Met)	not provided [RCV002662843]	uncertain significance	16	28844246	28844246	Human		name
156319511	CV2071281	single nucleotide variant	NM_003321.5(TUFM):c.304C>T (p.Pro102Ser)	not provided [RCV002834604]	uncertain significance	16	28845424	28845424	Human		name
156310715	CV2082381	single nucleotide variant	NM_003321.5(TUFM):c.478C>T (p.Pro160Ser)	not provided [RCV002898699]	uncertain significance	16	28844992	28844992	Human		name
10410163	CV211714	single nucleotide variant	NM_003321.5(TUFM):c.851G>A (p.Arg284His)	not provided [RCV000197621]	uncertain significance	16	28844301	28844301	Human		name
10409863	CV211715	single nucleotide variant	NM_003321.5(TUFM):c.622G>A (p.Glu208Lys)	Combined oxidative phosphorylation defect type 4 [RCV000327030]\|Inborn genetic diseases [RCV002515444]\|not provided [RCV000197002]	uncertain significance	16	28844760	28844760	Human	2	name
156333740	CV2186652	single nucleotide variant	NM_003321.5(TUFM):c.694C>A (p.Pro232Thr)	not provided [RCV003063844]	uncertain significance	16	28844542	28844542	Human		name
329398834	CV2442943	single nucleotide variant	NM_003321.5(TUFM):c.674G>A (p.Cys225Tyr)	Inborn genetic diseases [RCV003196316]\|not provided [RCV004775361]	uncertain significance	16	28844708	28844708	Human	1	name
329393249	CV2466820	single nucleotide variant	NM_003321.5(TUFM):c.368G>A (p.Arg123His)	Inborn genetic diseases [RCV003218213]	uncertain significance	16	28845360	28845360	Human	1	name
401762009	CV2699488	single nucleotide variant	NM_003321.5(TUFM):c.799G>A (p.Ala267Thr)	Inborn genetic diseases [RCV003281050]	uncertain significance	16	28844437	28844437	Human	1	name
401730380	CV2711260	single nucleotide variant	NM_003321.5(TUFM):c.436C>A (p.Pro146Thr)	Inborn genetic diseases [RCV003271351]	uncertain significance	16	28845034	28845034	Human	1	name
401771378	CV2722807	single nucleotide variant	NM_003321.5(TUFM):c.494G>C (p.Arg165Pro)	Inborn genetic diseases [RCV003304332]	uncertain significance	16	28844976	28844976	Human	1	name
401890101	CV2763516	single nucleotide variant	NM_003321.5(TUFM):c.941A>G (p.Lys314Arg)	Combined oxidative phosphorylation defect type 4 [RCV005399347]\|Inborn genetic diseases [RCV003354134]	uncertain significance	16	28844083	28844083	Human	2	name
402497230	CV2988841	single nucleotide variant	NM_003321.5(TUFM):c.475G>A (p.Gly159Ser)	not provided [RCV003714377]	uncertain significance	16	28844995	28844995	Human		name
405255565	CV3172546	single nucleotide variant	NM_003321.5(TUFM):c.842C>T (p.Thr281Ile)	not provided [RCV003872484]	uncertain significance	16	28844310	28844310	Human		name
11624624	CV334534	single nucleotide variant	NM_003321.5(TUFM):c.568C>T (p.Gln190Ter)	not specified [RCV004800384]	uncertain significance	16	28844814	28844814	Human		name
405809397	CV3348022	single nucleotide variant	NM_003321.5(TUFM):c.907C>T (p.Arg303Cys)	Inborn genetic diseases [RCV004481717]	uncertain significance	16	28844245	28844245	Human	1	name
11618005	CV341093	single nucleotide variant	NM_003321.5(TUFM):c.760G>A (p.Ala254Thr)	Combined oxidative phosphorylation defect type 4 [RCV000309536]\|not provided [RCV001549786]	likely benign\|uncertain significance	16	28844476	28844476	Human	1	name
11624577	CV341100	single nucleotide variant	NM_003321.5(TUFM):c.427G>A (p.Gly143Ser)	Combined oxidative phosphorylation defect type 4 [RCV000387592]\|Inborn genetic diseases [RCV004021652]\|not provided [RCV001550837]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	28845043	28845043	Human	2	name
407532372	CV3493038	single nucleotide variant	NM_003321.5(TUFM):c.645G>T (p.Glu215Asp)	Inborn genetic diseases [RCV004683016]	uncertain significance	16	28844737	28844737	Human	1	name
408366623	CV3500251	single nucleotide variant	NM_003321.5(TUFM):c.635A>G (p.Lys212Arg)	not provided [RCV004722294]	uncertain significance	16	28844747	28844747	Human		name
12741594	CV359087	single nucleotide variant	NM_003321.5(TUFM):c.440T>A (p.Leu147His)	Combined oxidative phosphorylation defect type 4 [RCV000412576]	pathogenic	16	28845030	28845030	Human	1	name
598189321	CV4008685	single nucleotide variant	NM_003321.5(TUFM):c.964G>A (p.Gly322Arg)	Combined oxidative phosphorylation defect type 4 [RCV005396184]	uncertain significance	16	28844060	28844060	Human	1	name
616937979	CV4013834	single nucleotide variant	NM_003321.5(TUFM):c.778C>G (p.Pro260Ala)	Combined oxidative phosphorylation defect type 4 [RCV005413326]	uncertain significance	16	28844458	28844458	Human	1	name
12906892	CV415487	single nucleotide variant	NM_003321.5(TUFM):c.320G>C (p.Arg107Pro)	not provided [RCV000489780]	likely pathogenic	16	28845408	28845408	Human		name
13508759	CV481497	single nucleotide variant	NM_003321.5(TUFM):c.989G>C (p.Arg330Pro)	Combined oxidative phosphorylation defect type 4 [RCV000578247]	likely pathogenic	16	28844035	28844035	Human	1	name
28876273	CV875065	single nucleotide variant	NM_003321.5(TUFM):c.800C>T (p.Ala267Val)	Combined oxidative phosphorylation defect type 4 [RCV001116230]	uncertain significance	16	28844436	28844436	Human	1	name
28880915	CV875066	single nucleotide variant	NM_003321.5(TUFM):c.619A>C (p.Thr207Pro)	Combined oxidative phosphorylation defect type 4 [RCV001117671]\|Inborn genetic diseases [RCV002556505]\|not provided [RCV002556504]	likely benign\|uncertain significance	16	28844763	28844763	Human	2	name
28880917	CV875067	single nucleotide variant	NM_003321.5(TUFM):c.595G>C (p.Glu199Gln)	Combined oxidative phosphorylation defect type 4 [RCV001117672]	uncertain significance	16	28844787	28844787	Human	1	name
28880921	CV875068	single nucleotide variant	NM_003321.5(TUFM):c.581T>C (p.Met194Thr)	Combined oxidative phosphorylation defect type 4 [RCV001117673]	uncertain significance	16	28844801	28844801	Human	1	name
28886106	CV875069	single nucleotide variant	NM_003321.5(TUFM):c.470A>G (p.Asn157Ser)	Combined oxidative phosphorylation defect type 4 [RCV001119244]\|not provided [RCV001856565]	uncertain significance	16	28845000	28845000	Human	1	name
150423713	CV1185093	single nucleotide variant	NM_003321.5(TUFM):c.1271G>A (p.Arg424His)	not provided [RCV001555696]	uncertain significance	16	28843072	28843072	Human		name
151767898	CV1345314	single nucleotide variant	NM_003321.5(TUFM):c.1021C>G (p.Leu341Val)	not provided [RCV001863793]	uncertain significance	16	28844003	28844003	Human		name
151866008	CV1354640	single nucleotide variant	NM_003321.5(TUFM):c.1337C>A (p.Thr446Asn)	Inborn genetic diseases [RCV004041293]\|not provided [RCV001924611]	uncertain significance	16	28843006	28843006	Human	1	name
151827340	CV1465251	single nucleotide variant	NM_003321.5(TUFM):c.1229A>G (p.Asn410Ser)	not provided [RCV002013969]	uncertain significance	16	28843114	28843114	Human		name
151827688	CV1465290	single nucleotide variant	NM_003321.5(TUFM):c.1241G>A (p.Arg414Gln)	not provided [RCV002013999]	uncertain significance	16	28843102	28843102	Human		name
151756741	CV1513895	single nucleotide variant	NM_003321.5(TUFM):c.1012C>T (p.Arg338Trp)	not provided [RCV001948688]	uncertain significance	16	28844012	28844012	Human		name
156418749	CV1918710	single nucleotide variant	NM_003321.5(TUFM):c.1270C>T (p.Arg424Cys)	not provided [RCV002611955]	uncertain significance	16	28843073	28843073	Human		name
156434443	CV1940040	single nucleotide variant	NM_003321.5(TUFM):c.1126C>T (p.His376Tyr)	not provided [RCV003104457]	uncertain significance	16	28843804	28843804	Human		name
156125457	CV1995356	single nucleotide variant	NM_003321.5(TUFM):c.1333A>G (p.Met445Val)	not provided [RCV002663019]	uncertain significance	16	28843010	28843010	Human		name
156370514	CV2048665	single nucleotide variant	NM_003321.5(TUFM):c.1358A>T (p.Lys453Ile)	not provided [RCV002814247]	uncertain significance	16	28842985	28842985	Human		name
10410835	CV211709	single nucleotide variant	NM_003321.5(TUFM):c.1364G>A (p.Gly455Asp)	not provided [RCV000198993]	likely pathogenic\|uncertain significance	16	28842979	28842979	Human		name
10409759	CV211710	single nucleotide variant	NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu)	Combined oxidative phosphorylation defect type 4 [RCV001334129]\|Inborn genetic diseases [RCV002517270]\|not provided [RCV000196792]	uncertain significance	16	28842995	28842995	Human	2	name
10411664	CV211711	single nucleotide variant	NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)	Combined oxidative phosphorylation defect type 4 [RCV000297654]\|Inborn genetic diseases [RCV003343697]\|not provided [RCV000200739]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	28843051	28843051	Human	2	name
10410938	CV211712	single nucleotide variant	NM_003321.5(TUFM):c.1196A>G (p.Glu399Gly)	not provided [RCV000199210]	likely pathogenic	16	28843147	28843147	Human		name
10410713	CV211713	single nucleotide variant	NM_003321.5(TUFM):c.1120G>A (p.Val374Met)	Combined oxidative phosphorylation defect type 4 [RCV001121142]\|TUFM-related disorder [RCV003937745]\|not provided [RCV000898093]	likely benign\|uncertain significance	16	28843810	28843810	Human	1	name , trait , alternate_id
8559796	CV22314	single nucleotide variant	NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln)	Combined oxidative phosphorylation defect type 4 [RCV000007698]\|not provided [RCV001851723]	pathogenic\|uncertain significance	16	28844008	28844008	Human	1	name
156211517	CV2259884	single nucleotide variant	NM_003321.5(TUFM):c.1099G>C (p.Gly367Arg)	Inborn genetic diseases [RCV002804108]	uncertain significance	16	28843831	28843831	Human	1	name
329397348	CV2466072	single nucleotide variant	NM_003321.5(TUFM):c.1015C>T (p.Arg339Trp)	Inborn genetic diseases [RCV003219977]	uncertain significance	16	28844009	28844009	Human	1	name
407532373	CV3493040	single nucleotide variant	NM_003321.5(TUFM):c.1025T>G (p.Val342Gly)	Inborn genetic diseases [RCV004683017]	uncertain significance	16	28843999	28843999	Human	1	name
151809679	CV1478045	duplication	NM_003321.5(TUFM):c.216_226dup (p.Leu76fs)	Combined oxidative phosphorylation defect type 4 [RCV005397205]\|not provided [RCV001953692]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	16	28845932	28845933	Human	1	name
151784344	CV1344685	microsatellite	NM_003321.5(TUFM):c.1347GAA[1] (p.Lys450del)	not provided [RCV001989421]	uncertain significance	16	28842991	28842993	Human		name
156317968	CV2071175	microsatellite	NM_003321.5(TUFM):c.1191_1192del (p.Lys398fs)	not provided [RCV002834519]	uncertain significance	16	28843738	28843739	Human		name
12741609	CV359088	deletion	NM_003321.5(TUFM):c.162del (p.Thr53_Tyr54insTer)	Combined oxidative phosphorylation defect type 4 [RCV000412638]	pathogenic	16	28845997	28845997	Human	1	name

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