Mtfmt Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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252 records found for search term Mtfmt

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405283164	CV3191266	single nucleotide variant	NM_139242.4(MTFMT):c.-7C>T	MTFMT-related disorder [RCV003921671]	likely benign	15	65029620	65029620	Human		name , trait , alternate_id
150407538	CV1194978	deletion	NM_139242.4(MTFMT):c.*99del	not provided [RCV001572371]	likely benign	15	65002963	65002963	Human		name
150506320	CV1226318	duplication	NM_139242.4(MTFMT):c.*99dup	not provided [RCV001635686]	benign	15	65002962	65002963	Human		name
8692005	CV141971	single nucleotide variant	NM_139242.4(MTFMT):c.-12G>C	MTFMT-related disorder [RCV004757131]\|not provided [RCV004714491]\|not specified [RCV000126846]	benign	15	65029625	65029625	Human	1	name , trait , alternate_id
150340006	CV1168332	single nucleotide variant	NM_139242.4(MTFMT):c.*100G>T	not provided [RCV001534854]	benign	15	65002962	65002962	Human		name
150497279	CV1208729	single nucleotide variant	NM_139242.4(MTFMT):c.*288G>T	not provided [RCV001593945]	likely benign	15	65002774	65002774	Human		name
150446497	CV1271877	single nucleotide variant	NM_139242.4(MTFMT):c.*293G>C	not provided [RCV001691291]	benign	15	65002769	65002769	Human		name
126736753	CV1017959	single nucleotide variant	NM_139242.4(MTFMT):c.419+3A>G	Combined oxidative phosphorylation defect type 15 [RCV001328607]\|not provided [RCV003546699]	likely benign\|uncertain significance	15	65026828	65026828	Human	1	name
8692004	CV141970	single nucleotide variant	NM_139242.4(MTFMT):c.210-6A>C	not provided [RCV000969297]\|not specified [RCV000126845]	benign	15	65027046	65027046	Human		name
152103909	CV1569910	single nucleotide variant	NM_139242.4(MTFMT):c.722-4G>A	not provided [RCV002195895]	likely benign	15	65016531	65016531	Human		name
155641466	CV1709799	single nucleotide variant	NM_139242.4(MTFMT):c.419+2T>C	not provided [RCV002292899]	likely pathogenic	15	65026829	65026829	Human		name
156269841	CV2136442	single nucleotide variant	NM_139242.4(MTFMT):c.645+3A>G	not provided [RCV003009225]	conflicting interpretations of pathogenicity\|uncertain significance	15	65021511	65021511	Human		name
10449831	CV215500	single nucleotide variant	NM_139242.4(MTFMT):c.646-4G>T	not specified [RCV000202977]	likely benign	15	65020276	65020276	Human		name
156434525	CV2402983	single nucleotide variant	NM_139242.4(MTFMT):c.722-2A>G	Combined oxidative phosphorylation defect type 15 [RCV004596572]\|not provided [RCV003126411]	likely pathogenic	15	65016529	65016529	Human	1	name
598244853	CV3895937	single nucleotide variant	NM_139242.4(MTFMT):c.975+3A>G	Leigh syndrome [RCV005365725]	uncertain significance	15	65004851	65004851	Human	1	name
13541159	CV505324	single nucleotide variant	NM_139242.4(MTFMT):c.721+3G>A	not provided [RCV002529704]\|not specified [RCV000615761]	likely benign\|uncertain significance	15	65020194	65020194	Human		name
13789044	CV550021	deletion	NM_139242.4(MTFMT):c.646-5del	not provided [RCV000676585]	benign	15	65020277	65020277	Human		name
127313203	CV1157514	deletion	NM_139242.4(MTFMT):c.892+17del	not provided [RCV001519178]	benign	15	65006096	65006096	Human		name
150413550	CV1177920	single nucleotide variant	NM_139242.4(MTFMT):c.209+62C>T	not provided [RCV001547833]	likely benign	15	65029343	65029343	Human		name
150432910	CV1200887	single nucleotide variant	NM_139242.4(MTFMT):c.645+99A>G	not provided [RCV001581611]	likely benign	15	65021415	65021415	Human		name
150491364	CV1210354	single nucleotide variant	NM_139242.4(MTFMT):c.209+71A>G	not provided [RCV001592636]	likely benign	15	65029334	65029334	Human		name
150437133	CV1237816	single nucleotide variant	NM_139242.4(MTFMT):c.542+49A>G	not provided [RCV001644314]	benign	15	65023623	65023623	Human		name
152125738	CV1532383	single nucleotide variant	NM_139242.4(MTFMT):c.722-13T>C	not provided [RCV002118428]	likely benign	15	65016540	65016540	Human		name
152133164	CV1588354	single nucleotide variant	NM_139242.4(MTFMT):c.209+14G>A	not provided [RCV002199593]	likely benign	15	65029391	65029391	Human		name
152087547	CV1625928	deletion	NM_139242.4(MTFMT):c.976-20del	not provided [RCV002131623]	likely benign	15	65003276	65003276	Human		name
152074629	CV1652759	single nucleotide variant	NM_139242.4(MTFMT):c.892+14A>C	not provided [RCV002148534]	likely benign	15	65006099	65006099	Human		name
156283708	CV1964489	single nucleotide variant	NM_139242.4(MTFMT):c.209+20G>A	not provided [RCV002577561]	likely benign	15	65029385	65029385	Human		name
156057294	CV2089916	single nucleotide variant	NM_139242.4(MTFMT):c.975+12A>G	not provided [RCV002867985]	likely benign	15	65004842	65004842	Human		name
155964556	CV2179938	single nucleotide variant	NM_139242.4(MTFMT):c.813+10G>A	not provided [RCV003033102]	likely benign	15	65016426	65016426	Human		name
405241005	CV3004548	deletion	NM_139242.4(MTFMT):c.542+20del	not provided [RCV003719146]	likely benign	15	65023652	65023652	Human		name
405028594	CV3015549	single nucleotide variant	NM_139242.4(MTFMT):c.721+13T>G	not provided [RCV003695353]	likely benign	15	65020184	65020184	Human		name
12843904	CV374254	single nucleotide variant	NM_139242.4(MTFMT):c.721+11G>A	not specified [RCV000437057]	likely benign	15	65020186	65020186	Human		name
597830589	CV3743126	single nucleotide variant	NM_139242.4(MTFMT):c.976-14A>G	not provided [RCV005062134]	likely benign	15	65003270	65003270	Human		name
12840527	CV376536	single nucleotide variant	NM_139242.4(MTFMT):c.645+19C>G	not provided [RCV002059662]\|not specified [RCV000430884]	benign\|likely benign	15	65021495	65021495	Human		name
597933684	CV3793439	single nucleotide variant	NM_139242.4(MTFMT):c.209+20G>T	not provided [RCV005132095]	likely benign	15	65029385	65029385	Human		name
13789047	CV550022	duplication	NM_139242.4(MTFMT):c.646-18dup	not provided [RCV000676586]	benign	15	65020276	65020277	Human		name
15187634	CV776211	single nucleotide variant	NM_139242.4(MTFMT):c.893-10C>T	not provided [RCV000931718]	likely benign	15	65004946	65004946	Human		name
150333847	CV1172758	single nucleotide variant	NM_139242.4(MTFMT):c.646-182T>C	not provided [RCV001539668]	benign	15	65020454	65020454	Human		name
150407901	CV1177918	single nucleotide variant	NM_139242.4(MTFMT):c.420-241T>G	not provided [RCV001545722]	likely benign	15	65024035	65024035	Human		name
150422608	CV1181289	duplication	NM_139242.4(MTFMT):c.722-271dup	not provided [RCV001552874]	likely benign	15	65016782	65016783	Human		name
150428712	CV1188269	duplication	NM_139242.4(MTFMT):c.814-228dup	not provided [RCV001562625]	likely benign	15	65006417	65006418	Human		name
150414634	CV1191708	single nucleotide variant	NM_139242.4(MTFMT):c.893-220T>C	not provided [RCV001567627]	likely benign	15	65005156	65005156	Human		name
150406130	CV1191709	single nucleotide variant	NM_139242.4(MTFMT):c.813+244A>G	not provided [RCV001564598]	likely benign	15	65016192	65016192	Human		name
150414855	CV1191710	duplication	NM_139242.4(MTFMT):c.210-175dup	not provided [RCV001567723]	likely benign	15	65027202	65027203	Human		name
150418807	CV1198666	single nucleotide variant	NM_139242.4(MTFMT):c.420-304C>T	not provided [RCV001576902]	likely benign	15	65024098	65024098	Human		name
150460736	CV1205817	single nucleotide variant	NM_139242.4(MTFMT):c.420-338C>G	not provided [RCV001586774]	likely benign	15	65024132	65024132	Human		name
150489425	CV1208436	single nucleotide variant	NM_139242.4(MTFMT):c.722-188A>G	not provided [RCV001592296]	likely benign	15	65016715	65016715	Human		name
150466570	CV1218212	single nucleotide variant	NM_139242.4(MTFMT):c.209+147C>G	not provided [RCV001614338]	benign	15	65029258	65029258	Human		name
150503210	CV1223410	deletion	NM_139242.4(MTFMT):c.722-256del	not provided [RCV001621345]	benign	15	65016783	65016783	Human		name
150469211	CV1243120	single nucleotide variant	NM_139242.4(MTFMT):c.814-217G>C	not provided [RCV001650639]	benign	15	65006408	65006408	Human		name
150508910	CV1244948	duplication	NM_139242.4(MTFMT):c.814-204dup	not provided [RCV001659199]	benign	15	65006378	65006379	Human		name
150476486	CV1279261	single nucleotide variant	NM_139242.4(MTFMT):c.722-116A>T	not provided [RCV001713989]	benign	15	65016643	65016643	Human		name
150497700	CV1281511	single nucleotide variant	NM_139242.4(MTFMT):c.814-143C>T	not provided [RCV001717893]	benign	15	65006334	65006334	Human		name
401904405	CV2814234	single nucleotide variant	NM_139242.4(MTFMT):c.209+109A>G	not provided [RCV003394933]	benign	15	65029296	65029296	Human		name
14723093	CV667031	single nucleotide variant	NM_139242.4(MTFMT):c.976-239A>G	not provided [RCV000832382]	likely benign	15	65003495	65003495	Human		name
14744464	CV667036	single nucleotide variant	NM_139242.4(MTFMT):c.814-246G>A	not provided [RCV000842777]	benign	15	65006437	65006437	Human		name
14744462	CV667038	single nucleotide variant	NM_139242.4(MTFMT):c.814-248G>A	not provided [RCV000842776]	benign	15	65006439	65006439	Human		name
14746453	CV667041	single nucleotide variant	NM_139242.4(MTFMT):c.420-254A>G	not provided [RCV000844466]	benign	15	65024048	65024048	Human		name
14746457	CV667897	single nucleotide variant	NM_139242.4(MTFMT):c.813+191G>C	not provided [RCV000844470]	benign	15	65016245	65016245	Human		name
14709376	CV667898	deletion	NM_139242.4(MTFMT):c.646-124del	not provided [RCV000835555]	benign	15	65020396	65020396	Human		name
14723090	CV668253	single nucleotide variant	NM_139242.4(MTFMT):c.893-253A>G	not provided [RCV000832381]	likely benign	15	65005189	65005189	Human		name
14746456	CV668255	single nucleotide variant	NM_139242.4(MTFMT):c.542+275A>C	not provided [RCV000844469]	benign	15	65023397	65023397	Human		name
243056397	CV2410376	single nucleotide variant	NM_139242.4(MTFMT):c.814-4787C>G	not provided [RCV003132690]	uncertain significance	15	65010978	65010978	Human		name
156405064	CV1916855	single nucleotide variant	NM_139242.4(MTFMT):c.9G>A (p.Val3=)	not provided [RCV002606243]	likely benign\|conflicting interpretations of pathogenicity	15	65029605	65029605	Human		name
13789037	CV550019	deletion	NM_139242.4(MTFMT):c.646-6_646-5del	not provided [RCV000676583]	likely benign	15	65020277	65020278	Human		name
151757778	CV1438790	single nucleotide variant	NM_139242.4(MTFMT):c.18G>T (p.Arg6=)	not provided [RCV002007511]	likely benign	15	65029596	65029596	Human		name
152130131	CV1630910	single nucleotide variant	NM_139242.4(MTFMT):c.15G>C (p.Val5=)	not provided [RCV002118977]	likely benign	15	65029599	65029599	Human		name
152036283	CV1636340	single nucleotide variant	NM_139242.4(MTFMT):c.18G>A (p.Arg6=)	not provided [RCV002107035]	likely benign	15	65029596	65029596	Human		name
401930034	CV2814235	single nucleotide variant	NM_139242.4(MTFMT):c.21C>T (p.Arg7=)	not provided [RCV003390519]	likely benign	15	65029593	65029593	Human		name
405262744	CV3189403	single nucleotide variant	NM_139242.4(MTFMT):c.12G>A (p.Leu4=)	MTFMT-related disorder [RCV003896637]	likely benign	15	65029602	65029602	Human		name , trait , alternate_id
150542915	CV1315009	single nucleotide variant	NM_139242.4(MTFMT):c.2T>C (p.Met1Thr)	not provided [RCV001782463]	likely pathogenic	15	65029612	65029612	Human		name
150542921	CV1315011	single nucleotide variant	NM_139242.4(MTFMT):c.1A>C (p.Met1Leu)	MTFMT-Related Disorders [RCV004699473]\|not provided [RCV001782465]	pathogenic\|likely pathogenic	15	65029613	65029613	Human	1	name , trait
151830702	CV1391791	single nucleotide variant	NM_139242.4(MTFMT):c.7G>A (p.Val3Met)	Inborn genetic diseases [RCV005374820]\|not provided [RCV002050698]	uncertain significance	15	65029607	65029607	Human	1	name
151768571	CV1410494	single nucleotide variant	NM_139242.4(MTFMT):c.5G>A (p.Arg2Lys)	Inborn genetic diseases [RCV004043797]\|not provided [RCV001988023]	uncertain significance	15	65029609	65029609	Human	1	name
152981640	CV1676952	single nucleotide variant	NM_139242.4(MTFMT):c.4A>G (p.Arg2Gly)	not provided [RCV003120849]\|not specified [RCV002248019]	uncertain significance	15	65029610	65029610	Human		name
156407646	CV1957564	single nucleotide variant	NM_139242.4(MTFMT):c.37C>T (p.Leu13=)	not provided [RCV002586292]	likely benign	15	65029577	65029577	Human		name
156245685	CV1969531	single nucleotide variant	NM_139242.4(MTFMT):c.87G>A (p.Leu29=)	not provided [RCV002597300]	likely benign	15	65029527	65029527	Human		name
156031692	CV2036958	microsatellite	NM_139242.4(MTFMT):c.646-19_646-18del	not provided [RCV002781136]	likely benign	15	65020290	65020291	Human		name
156266274	CV2059623	single nucleotide variant	NM_139242.4(MTFMT):c.1A>T (p.Met1Leu)	not provided [RCV002806503]	pathogenic\|uncertain significance	15	65029613	65029613	Human		name
155994434	CV2112969	deletion	NM_139242.4(MTFMT):c.646-19_646-17del	not provided [RCV002947489]	likely benign	15	65020289	65020291	Human		name
405222092	CV3158217	single nucleotide variant	NM_139242.4(MTFMT):c.51C>T (p.Ala17=)	not provided [RCV003863713]	likely benign	15	65029563	65029563	Human		name
13789040	CV550020	duplication	NM_139242.4(MTFMT):c.646-18_646-17dup	not provided [RCV000676584]	benign	15	65020276	65020277	Human		name
14711511	CV656296	single nucleotide variant	NM_139242.4(MTFMT):c.96C>A (p.Leu32=)	MTFMT-related disorder [RCV003948024]\|not provided [RCV000828067]	likely benign	15	65029518	65029518	Human	1	name , trait , alternate_id
150546097	CV1313584	single nucleotide variant	NM_139242.4(MTFMT):c.27G>A (p.Trp9Ter)	not provided [RCV001784681]	pathogenic	15	65029587	65029587	Human		name
151888642	CV1402200	single nucleotide variant	NM_139242.4(MTFMT):c.10T>G (p.Leu4Val)	not provided [RCV001942627]	uncertain significance	15	65029604	65029604	Human		name
8692006	CV141972	single nucleotide variant	NM_139242.4(MTFMT):c.14T>C (p.Val5Ala)	not provided [RCV000676590]\|not specified [RCV000126847]	benign	15	65029600	65029600	Human		name
8692007	CV141973	single nucleotide variant	NM_139242.4(MTFMT):c.186G>C (p.Ala62=)	not provided [RCV000676588]\|not specified [RCV000126848]	benign\|likely benign	15	65029428	65029428	Human		name
152143933	CV1538496	single nucleotide variant	NM_139242.4(MTFMT):c.255A>C (p.Thr85=)	not provided [RCV002219747]	likely benign	15	65026995	65026995	Human		name
152088382	CV1562918	single nucleotide variant	NM_139242.4(MTFMT):c.252C>A (p.Val84=)	not provided [RCV002113732]	likely benign	15	65026998	65026998	Human		name
156117003	CV1972876	single nucleotide variant	NM_139242.4(MTFMT):c.11T>C (p.Leu4Ser)	Inborn genetic diseases [RCV004948719]\|not provided [RCV002592986]	uncertain significance	15	65029603	65029603	Human	1	name
156354375	CV2012078	single nucleotide variant	NM_139242.4(MTFMT):c.19C>T (p.Arg7Cys)	not provided [RCV002720417]	uncertain significance	15	65029595	65029595	Human		name
156016468	CV2120578	single nucleotide variant	NM_139242.4(MTFMT):c.171G>A (p.Gln57=)	not provided [RCV002975930]	likely benign	15	65029443	65029443	Human		name
156359631	CV2126345	single nucleotide variant	NM_139242.4(MTFMT):c.23G>C (p.Cys8Ser)	not provided [RCV002966894]	uncertain significance	15	65029591	65029591	Human		name
401904404	CV2814233	single nucleotide variant	NM_139242.4(MTFMT):c.273A>C (p.Pro91=)	not provided [RCV003394932]	likely benign	15	65026977	65026977	Human		name
405051331	CV2887035	single nucleotide variant	NM_139242.4(MTFMT):c.225A>G (p.Glu75=)	not provided [RCV003579713]	likely benign	15	65027025	65027025	Human		name
405103552	CV3116232	single nucleotide variant	NM_139242.4(MTFMT):c.165G>C (p.Thr55=)	not provided [RCV003811948]	likely benign	15	65029449	65029449	Human		name
597663927	CV3564453	single nucleotide variant	NM_139242.4(MTFMT):c.22T>A (p.Cys8Ser)	Inborn genetic diseases [RCV004947216]	uncertain significance	15	65029592	65029592	Human	1	name
12743094	CV361379	single nucleotide variant	NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp)	MTFMT-related disorder [RCV003902461]\|not provided [RCV000416005]\|not specified [RCV000441542]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	65029598	65029598	Human	1	name , trait , alternate_id
13541959	CV505766	single nucleotide variant	NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro)	Inborn genetic diseases [RCV002528719]\|not provided [RCV001719088]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	65029597	65029597	Human	1	name
13704273	CV538446	single nucleotide variant	NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly)	Combined oxidative phosphorylation defect type 15 [RCV000660613]\|Inborn genetic diseases [RCV002530580]	uncertain significance	15	65029595	65029595	Human	2	name
14711508	CV656297	single nucleotide variant	NM_139242.4(MTFMT):c.16C>G (p.Arg6Gly)	MTFMT-related disorder [RCV003918291]\|not provided [RCV000828066]	benign\|likely benign	15	65029598	65029598	Human	1	name , trait , alternate_id
15106286	CV726205	single nucleotide variant	NM_139242.4(MTFMT):c.189G>A (p.Leu63=)	not provided [RCV000893251]	likely benign	15	65029425	65029425	Human		name
126728619	CV1017960	single nucleotide variant	NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr)	Combined oxidative phosphorylation defect type 15 [RCV001332912]\|Inborn genetic diseases [RCV004035753]\|not provided [RCV001859303]	uncertain significance	15	65029580	65029580	Human	2	name
150415398	CV1177919	deletion	NM_139242.4(MTFMT):c.419+113_419+114del	not provided [RCV001548559]	likely benign	15	65026717	65026718	Human		name
8689262	CV137062	single nucleotide variant	NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter)	Combined oxidative phosphorylation defect type 15 [RCV000119837]\|not provided [RCV001008656]	pathogenic	15	65029541	65029541	Human	1	name
8692002	CV141968	single nucleotide variant	NM_139242.4(MTFMT):c.906G>A (p.Thr302=)	not provided [RCV000676582]\|not specified [RCV000126843]	benign	15	65004923	65004923	Human		name
151858251	CV1503440	single nucleotide variant	NM_139242.4(MTFMT):c.98G>A (p.Gly33Asp)	Inborn genetic diseases [RCV005370072]\|not provided [RCV001979793]	uncertain significance	15	65029516	65029516	Human	1	name
151730552	CV1506337	single nucleotide variant	NM_139242.4(MTFMT):c.31C>T (p.Pro11Ser)	not provided [RCV001892205]	uncertain significance	15	65029583	65029583	Human		name
151729685	CV1517699	single nucleotide variant	NM_139242.4(MTFMT):c.35C>T (p.Pro12Leu)	Inborn genetic diseases [RCV003289414]\|not provided [RCV002052314]	conflicting interpretations of pathogenicity\|uncertain significance	15	65029579	65029579	Human	1	name
152089574	CV1535602	single nucleotide variant	NM_139242.4(MTFMT):c.732T>A (p.Ile244=)	not provided [RCV002150414]	likely benign	15	65016517	65016517	Human		name
152153833	CV1592938	single nucleotide variant	NM_139242.4(MTFMT):c.840G>A (p.Ala280=)	not provided [RCV002202389]	likely benign	15	65006165	65006165	Human		name
152091706	CV1594340	single nucleotide variant	NM_139242.4(MTFMT):c.663A>G (p.Lys221=)	not provided [RCV002171908]	likely benign	15	65020255	65020255	Human		name
156028134	CV1923010	single nucleotide variant	NM_139242.4(MTFMT):c.44A>G (p.His15Arg)	Inborn genetic diseases [RCV004070683]\|not provided [RCV002637038]	uncertain significance	15	65029570	65029570	Human	1	name
156446526	CV1947871	single nucleotide variant	NM_139242.4(MTFMT):c.324T>C (p.Tyr108=)	not provided [RCV003118033]	likely benign	15	65026926	65026926	Human		name
156103213	CV1956676	single nucleotide variant	NM_139242.4(MTFMT):c.658T>C (p.Leu220=)	not provided [RCV002570925]	likely benign	15	65020260	65020260	Human		name
156205235	CV1959239	single nucleotide variant	NM_139242.4(MTFMT):c.819G>A (p.Pro273=)	not provided [RCV002574932]	likely benign\|uncertain significance	15	65006186	65006186	Human		name
156381787	CV1978868	single nucleotide variant	NM_139242.4(MTFMT):c.44A>C (p.His15Pro)	Inborn genetic diseases [RCV004651994]\|not provided [RCV002604017]	uncertain significance	15	65029570	65029570	Human	1	name
156105362	CV2008354	single nucleotide variant	NM_139242.4(MTFMT):c.453G>A (p.Pro151=)	not provided [RCV002695459]	likely benign	15	65023761	65023761	Human		name
156060878	CV2034532	single nucleotide variant	NM_139242.4(MTFMT):c.333G>A (p.Pro111=)	not provided [RCV002736834]	likely benign	15	65026917	65026917	Human		name
156158734	CV2049423	single nucleotide variant	NM_139242.4(MTFMT):c.672T>C (p.Pro224=)	not provided [RCV002801550]	likely benign	15	65020246	65020246	Human		name
155999218	CV2122765	single nucleotide variant	NM_139242.4(MTFMT):c.610T>C (p.Leu204=)	MTFMT-related disorder [RCV003926603]\|not provided [RCV002975102]	likely benign	15	65021549	65021549	Human	1	name , trait , alternate_id
156049087	CV2154200	single nucleotide variant	NM_139242.4(MTFMT):c.519A>G (p.Thr173=)	not provided [RCV003019334]	likely benign	15	65023695	65023695	Human		name
156372546	CV2194439	single nucleotide variant	NM_139242.4(MTFMT):c.32C>T (p.Pro11Leu)	Inborn genetic diseases [RCV002677033]	likely benign\|uncertain significance	15	65029582	65029582	Human	1	name
155981932	CV2337106	single nucleotide variant	NM_139242.4(MTFMT):c.92G>C (p.Arg31Pro)	Inborn genetic diseases [RCV002973935]	uncertain significance	15	65029522	65029522	Human	1	name
401904403	CV2814232	single nucleotide variant	NM_139242.4(MTFMT):c.972C>T (p.Cys324=)	not provided [RCV003394931]	likely benign	15	65004857	65004857	Human		name
402491610	CV2980914	single nucleotide variant	NM_139242.4(MTFMT):c.357T>C (p.Asp119=)	not provided [RCV003713747]	likely benign	15	65026893	65026893	Human		name
405286537	CV3192825	single nucleotide variant	NM_139242.4(MTFMT):c.495C>T (p.His165=)	MTFMT-related disorder [RCV003981554]	likely benign	15	65023719	65023719	Human		name , trait , alternate_id
405665320	CV3373019	single nucleotide variant	NM_139242.4(MTFMT):c.62G>C (p.Arg21Thr)	Inborn genetic diseases [RCV004514033]\|not provided [RCV005104829]	uncertain significance	15	65029552	65029552	Human	1	name
12840399	CV374653	single nucleotide variant	NM_139242.4(MTFMT):c.885C>T (p.Val295=)	not provided [RCV000974022]	benign\|likely benign	15	65006120	65006120	Human		name
12836368	CV376543	single nucleotide variant	NM_139242.4(MTFMT):c.375G>A (p.Ser125=)	not provided [RCV001720129]	likely benign	15	65026875	65026875	Human		name
12844133	CV376544	single nucleotide variant	NM_139242.4(MTFMT):c.318C>T (p.Pro106=)	not provided [RCV005090849]\|not specified [RCV000437457]	likely benign	15	65026932	65026932	Human		name
597845703	CV3827865	single nucleotide variant	NM_139242.4(MTFMT):c.441C>G (p.Pro147=)	not provided [RCV005172939]	likely benign	15	65023773	65023773	Human		name
13508721	CV481417	single nucleotide variant	NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter)	Combined oxidative phosphorylation defect type 15 [RCV000578227]	pathogenic	15	65029523	65029523	Human	1	name
13541364	CV504907	single nucleotide variant	NM_139242.4(MTFMT):c.720C>T (p.Tyr240=)	not provided [RCV002529731]\|not specified [RCV000616057]	likely benign\|uncertain significance	15	65020198	65020198	Human		name
14708973	CV668265	duplication	NM_139242.4(MTFMT):c.542+174_542+181dup	not provided [RCV000832379]	likely benign	15	65023490	65023491	Human		name
15102075	CV754627	single nucleotide variant	NM_139242.4(MTFMT):c.396G>A (p.Glu132=)	MTFMT-related disorder [RCV003923212]\|not provided [RCV000914902]	benign\|likely benign	15	65026854	65026854	Human	1	name , trait , alternate_id
150546105	CV1313586	duplication	NM_139242.4(MTFMT):c.13_23dup (p.Cys8fs)	not provided [RCV001784683]	pathogenic	15	65029590	65029591	Human		name
150542918	CV1315010	duplication	NM_139242.4(MTFMT):c.14_18dup (p.Arg7fs)	not provided [RCV001782464]	likely pathogenic	15	65029595	65029596	Human		name
151736032	CV1391525	single nucleotide variant	NM_139242.4(MTFMT):c.215A>G (p.Asn72Ser)	not provided [RCV002005311]	uncertain significance	15	65027035	65027035	Human		name
151763286	CV1407510	single nucleotide variant	NM_139242.4(MTFMT):c.194C>T (p.Ala65Val)	not provided [RCV002044521]	uncertain significance	15	65029420	65029420	Human		name
151727520	CV1412718	single nucleotide variant	NM_139242.4(MTFMT):c.1158A>G (p.Gln386=)	not provided [RCV001945710]	likely benign\|uncertain significance	15	65003074	65003074	Human		name
8692003	CV141969	single nucleotide variant	NM_139242.4(MTFMT):c.1065G>A (p.Gln355=)	not provided [RCV000676581]\|not specified [RCV000126844]	benign	15	65003167	65003167	Human		name
151764473	CV1478410	single nucleotide variant	NM_139242.4(MTFMT):c.239A>G (p.Lys80Arg)	not provided [RCV002008238]	uncertain significance	15	65027011	65027011	Human		name
151747151	CV1478543	single nucleotide variant	NM_139242.4(MTFMT):c.226G>A (p.Glu76Lys)	not provided [RCV002022959]	uncertain significance	15	65027024	65027024	Human		name
151720906	CV1504444	single nucleotide variant	NM_139242.4(MTFMT):c.144G>A (p.Trp48Ter)	not provided [RCV001983062]	pathogenic	15	65029470	65029470	Human		name
155802813	CV1857790	single nucleotide variant	NM_139242.4(MTFMT):c.231A>T (p.Leu77Phe)	not provided [RCV002461640]	uncertain significance	15	65027019	65027019	Human		name
156196263	CV1994929	single nucleotide variant	NM_139242.4(MTFMT):c.274A>G (p.Lys92Glu)	not provided [RCV002643476]	uncertain significance	15	65026976	65026976	Human		name
156294471	CV2009958	single nucleotide variant	NM_139242.4(MTFMT):c.247G>A (p.Val83Met)	not provided [RCV002715785]	uncertain significance	15	65027003	65027003	Human		name
156228362	CV2121919	single nucleotide variant	NM_139242.4(MTFMT):c.226G>C (p.Glu76Gln)	Inborn genetic diseases [RCV004068057]\|not provided [RCV002958413]	uncertain significance	15	65027024	65027024	Human	1	name
156098982	CV2132186	single nucleotide variant	NM_139242.4(MTFMT):c.281T>G (p.Leu94Arg)	not provided [RCV003002141]	uncertain significance	15	65026969	65026969	Human		name
156138275	CV2253654	single nucleotide variant	NM_139242.4(MTFMT):c.178C>T (p.Arg60Cys)	Inborn genetic diseases [RCV002826025]	uncertain significance	15	65029436	65029436	Human	1	name
156175385	CV2299590	single nucleotide variant	NM_139242.4(MTFMT):c.103G>A (p.Glu35Lys)	Inborn genetic diseases [RCV002891646]	uncertain significance	15	65029511	65029511	Human	1	name
405211953	CV3117889	single nucleotide variant	NM_139242.4(MTFMT):c.253A>T (p.Thr85Ser)	not provided [RCV003823488]	uncertain significance	15	65026997	65026997	Human		name
405122138	CV3131601	single nucleotide variant	NM_139242.4(MTFMT):c.1068A>G (p.Lys356=)	not provided [RCV003837465]	benign	15	65003164	65003164	Human		name
405665203	CV3372994	single nucleotide variant	NM_139242.4(MTFMT):c.227A>G (p.Glu76Gly)	Inborn genetic diseases [RCV004514008]	uncertain significance	15	65027023	65027023	Human	1	name
597701957	CV3564454	single nucleotide variant	NM_139242.4(MTFMT):c.175G>T (p.Ala59Ser)	Inborn genetic diseases [RCV004956654]	uncertain significance	15	65029439	65029439	Human	1	name
597663931	CV3564455	single nucleotide variant	NM_139242.4(MTFMT):c.185C>G (p.Ala62Gly)	Inborn genetic diseases [RCV004947217]	uncertain significance	15	65029429	65029429	Human	1	name
12841300	CV374251	single nucleotide variant	NM_139242.4(MTFMT):c.1092A>G (p.Gln364=)	not provided [RCV000964344]	benign\|likely benign	15	65003140	65003140	Human		name
598214953	CV3989948	single nucleotide variant	NM_139242.4(MTFMT):c.187C>G (p.Leu63Val)	Inborn genetic diseases [RCV005378660]	uncertain significance	15	65029427	65029427	Human	1	name
598181003	CV3989949	single nucleotide variant	NM_139242.4(MTFMT):c.164C>T (p.Thr55Met)	Inborn genetic diseases [RCV005372211]	uncertain significance	15	65029450	65029450	Human	1	name
617150807	CV4019233	single nucleotide variant	NM_139242.4(MTFMT):c.110G>A (p.Cys37Tyr)	not provided [RCV005423641]	uncertain significance	15	65029504	65029504	Human		name
13442651	CV434648	single nucleotide variant	NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)	Combined oxidative phosphorylation defect type 15 [RCV000509123]\|not provided [RCV000676589]	benign\|likely benign\|not provided	15	65029442	65029442	Human	1	name
13789051	CV550023	single nucleotide variant	NM_139242.4(MTFMT):c.216C>G (p.Asn72Lys)	not provided [RCV000676587]	uncertain significance	15	65027034	65027034	Human		name
126736760	CV1017957	single nucleotide variant	NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)	Combined oxidative phosphorylation defect type 15 [RCV001328609]	uncertain significance	15	65023748	65023748	Human	1	name
126736756	CV1017958	single nucleotide variant	NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)	Combined oxidative phosphorylation defect type 15 [RCV001328608]	uncertain significance	15	65023754	65023754	Human	1	name
150496440	CV1206082	single nucleotide variant	NM_139242.4(MTFMT):c.905C>T (p.Thr302Met)	Inborn genetic diseases [RCV002573344]\|not provided [RCV001593764]	uncertain significance	15	65004924	65004924	Human	1	name
150507943	CV1244692	single nucleotide variant	NM_139242.4(MTFMT):c.484A>G (p.Thr162Ala)	not provided [RCV001658941]	uncertain significance	15	65023730	65023730	Human		name
8591095	CV125903	single nucleotide variant	NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu)	Combined oxidative phosphorylation defect type 15 [RCV000106391]	pathogenic	15	65023762	65023762	Human	1	name
150472229	CV1281167	single nucleotide variant	NM_139242.4(MTFMT):c.476T>C (p.Val159Ala)	MTFMT-related disorder [RCV003968509]\|not provided [RCV001713333]	benign	15	65023738	65023738	Human	1	name , trait , alternate_id
150540685	CV1296079	single nucleotide variant	NM_139242.4(MTFMT):c.637G>A (p.Ala213Thr)	not provided [RCV001760548]	uncertain significance	15	65021522	65021522	Human		name
150533747	CV1302074	single nucleotide variant	NM_139242.4(MTFMT):c.479T>C (p.Ile160Thr)	not provided [RCV001758348]	uncertain significance	15	65023735	65023735	Human		name
150546101	CV1313585	single nucleotide variant	NM_139242.4(MTFMT):c.694C>T (p.Gln232Ter)	not provided [RCV001784682]	pathogenic	15	65020224	65020224	Human		name
151348034	CV1325262	single nucleotide variant	NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter)	Combined oxidative phosphorylation defect type 15 [RCV001813904]	likely pathogenic	15	65023755	65023755	Human	1	name
151661702	CV1329960	single nucleotide variant	NM_139242.4(MTFMT):c.845C>T (p.Thr282Ile)	not provided [RCV001823370]	uncertain significance	15	65006160	65006160	Human		name
151760991	CV1358097	single nucleotide variant	NM_139242.4(MTFMT):c.653C>T (p.Ser218Leu)	not provided [RCV001928514]	uncertain significance	15	65020265	65020265	Human		name
8689261	CV137061	single nucleotide variant	NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn)	Combined oxidative phosphorylation defect type 15 [RCV000119836]	pathogenic	15	65006127	65006127	Human	1	name
151758955	CV1391790	single nucleotide variant	NM_139242.4(MTFMT):c.649A>G (p.Ile217Val)	Inborn genetic diseases [RCV005369971]\|not provided [RCV002044047]	uncertain significance	15	65020269	65020269	Human	1	name
151774690	CV1402429	single nucleotide variant	NM_139242.4(MTFMT):c.834G>A (p.Trp278Ter)	not provided [RCV001929862]	pathogenic	15	65006171	65006171	Human		name
151791501	CV1402985	single nucleotide variant	NM_139242.4(MTFMT):c.689G>A (p.Gly230Glu)	not provided [RCV001898225]	uncertain significance	15	65020229	65020229	Human		name
8692001	CV141967	single nucleotide variant	NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)	Combined oxidative phosphorylation defect type 15 [RCV001197773]\|not provided [RCV000967366]\|not specified [RCV000126842]	benign	15	65016453	65016453	Human	1	name
151775056	CV1440155	single nucleotide variant	NM_139242.4(MTFMT):c.817C>G (p.Pro273Ala)	Inborn genetic diseases [RCV002551155]\|not provided [RCV001874820]	uncertain significance	15	65006188	65006188	Human	1	name
151872383	CV1480659	single nucleotide variant	NM_139242.4(MTFMT):c.898A>G (p.Lys300Glu)	not provided [RCV001906657]	uncertain significance	15	65004931	65004931	Human		name
151720638	CV1496876	single nucleotide variant	NM_139242.4(MTFMT):c.424A>G (p.Ile142Val)	not provided [RCV001909669]	uncertain significance	15	65023790	65023790	Human		name
151857832	CV1503359	single nucleotide variant	NM_139242.4(MTFMT):c.736G>T (p.Ala246Ser)	not provided [RCV001996754]	uncertain significance	15	65016513	65016513	Human		name
155803010	CV1857893	single nucleotide variant	NM_139242.4(MTFMT):c.459G>T (p.Trp153Cys)	Inborn genetic diseases [RCV003103111]\|not provided [RCV002461743]	uncertain significance	15	65023755	65023755	Human	1	name
155800505	CV1863637	single nucleotide variant	NM_139242.4(MTFMT):c.776A>G (p.Glu259Gly)	not provided [RCV002474060]	uncertain significance	15	65016473	65016473	Human		name
156323108	CV1976316	single nucleotide variant	NM_139242.4(MTFMT):c.358G>A (p.Val120Ile)	not provided [RCV002600359]	uncertain significance	15	65026892	65026892	Human		name
156285828	CV2001705	single nucleotide variant	NM_139242.4(MTFMT):c.524T>C (p.Met175Thr)	not provided [RCV002647004]	uncertain significance	15	65023690	65023690	Human		name
156257981	CV2026012	duplication	NM_139242.4(MTFMT):c.719dup (p.Tyr240Ter)	not provided [RCV002746209]	pathogenic	15	65020198	65020199	Human		name
156214384	CV2028585	single nucleotide variant	NM_139242.4(MTFMT):c.910C>T (p.Gln304Ter)	not provided [RCV002711891]	pathogenic	15	65004919	65004919	Human		name
10405616	CV213637	deletion	NM_139242.4(MTFMT):c.1116del (p.Pro373fs)	Combined oxidative phosphorylation defect type 15 [RCV000196317]	pathogenic\|likely pathogenic	15	65003116	65003116	Human	1	name
155960861	CV2138367	single nucleotide variant	NM_139242.4(MTFMT):c.607G>A (p.Glu203Lys)	not provided [RCV002972378]	uncertain significance	15	65021552	65021552	Human		name
156223190	CV2144308	single nucleotide variant	NM_139242.4(MTFMT):c.825G>C (p.Gln275His)	not provided [RCV003007462]	uncertain significance	15	65006180	65006180	Human		name
156292010	CV2156404	single nucleotide variant	NM_139242.4(MTFMT):c.589C>T (p.Pro197Ser)	not provided [RCV003010006]	uncertain significance	15	65021570	65021570	Human		name
156049270	CV2186642	single nucleotide variant	NM_139242.4(MTFMT):c.857T>C (p.Leu286Pro)	not provided [RCV003036853]	uncertain significance	15	65006148	65006148	Human		name
156187371	CV2226680	single nucleotide variant	NM_139242.4(MTFMT):c.299C>T (p.Ala100Val)	Inborn genetic diseases [RCV002742637]	uncertain significance	15	65026951	65026951	Human	1	name
155975629	CV2235910	single nucleotide variant	NM_139242.4(MTFMT):c.816T>G (p.Ile272Met)	Inborn genetic diseases [RCV002777244]	uncertain significance	15	65006189	65006189	Human	1	name
156039253	CV2279005	single nucleotide variant	NM_139242.4(MTFMT):c.379G>C (p.Gly127Arg)	Inborn genetic diseases [RCV002845944]	uncertain significance	15	65026871	65026871	Human	1	name
156196985	CV2306773	single nucleotide variant	NM_139242.4(MTFMT):c.446G>A (p.Cys149Tyr)	Inborn genetic diseases [RCV002892898]	uncertain significance	15	65023768	65023768	Human	1	name
329355775	CV2445657	single nucleotide variant	NM_139242.4(MTFMT):c.920T>C (p.Ile307Thr)	Inborn genetic diseases [RCV003203013]	uncertain significance	15	65004909	65004909	Human	1	name
329371546	CV2458895	single nucleotide variant	NM_139242.4(MTFMT):c.922C>T (p.Pro308Ser)	Inborn genetic diseases [RCV003209793]	uncertain significance	15	65004907	65004907	Human	1	name
401830428	CV2748130	single nucleotide variant	NM_139242.4(MTFMT):c.839C>T (p.Ala280Val)	Inborn genetic diseases [RCV004334102]\|not provided [RCV003329737]	uncertain significance	15	65006166	65006166	Human	1	name
401875152	CV2791131	single nucleotide variant	NM_139242.4(MTFMT):c.887T>C (p.Leu296Pro)	Inborn genetic diseases [RCV003362586]	uncertain significance	15	65006118	65006118	Human	1	name
405037139	CV3067530	single nucleotide variant	NM_139242.4(MTFMT):c.461G>A (p.Arg154His)	not provided [RCV003739618]	uncertain significance	15	65023753	65023753	Human		name
405230846	CV3153946	single nucleotide variant	NM_139242.4(MTFMT):c.881C>G (p.Ser294Ter)	not provided [RCV003848814]	pathogenic	15	65006124	65006124	Human		name
405718809	CV3227789	single nucleotide variant	NM_139242.4(MTFMT):c.368T>C (p.Val123Ala)	Combined oxidative phosphorylation defect type 15 [RCV003992124]	uncertain significance	15	65026882	65026882	Human	1	name
405665302	CV3373016	single nucleotide variant	NM_139242.4(MTFMT):c.517A>G (p.Thr173Ala)	Inborn genetic diseases [RCV004514030]	uncertain significance	15	65023697	65023697	Human	1	name
405665313	CV3373018	single nucleotide variant	NM_139242.4(MTFMT):c.556C>T (p.Pro186Ser)	Inborn genetic diseases [RCV004514032]	uncertain significance	15	65021603	65021603	Human	1	name
405665336	CV3373022	single nucleotide variant	NM_139242.4(MTFMT):c.871G>T (p.Val291Phe)	Inborn genetic diseases [RCV004514036]	uncertain significance	15	65006134	65006134	Human	1	name
405665352	CV3373025	single nucleotide variant	NM_139242.4(MTFMT):c.893A>G (p.Asp298Gly)	Inborn genetic diseases [RCV004514039]	uncertain significance	15	65004936	65004936	Human	1	name
405665358	CV3373026	single nucleotide variant	NM_139242.4(MTFMT):c.916C>G (p.Leu306Val)	Inborn genetic diseases [RCV004514040]	likely benign	15	65004913	65004913	Human	1	name
407475960	CV3447434	single nucleotide variant	NM_139242.4(MTFMT):c.739G>A (p.Gly247Ser)	Inborn genetic diseases [RCV004638472]	uncertain significance	15	65016510	65016510	Human	1	name
407507204	CV3447435	single nucleotide variant	NM_139242.4(MTFMT):c.772T>A (p.Ser258Thr)	Inborn genetic diseases [RCV004646730]	uncertain significance	15	65016477	65016477	Human	1	name
12834692	CV373617	single nucleotide variant	NM_139242.4(MTFMT):c.601G>A (p.Ala201Thr)	not provided [RCV002061436]\|not specified [RCV000420388]	benign	15	65021558	65021558	Human		name
597892416	CV3743838	single nucleotide variant	NM_139242.4(MTFMT):c.323A>G (p.Tyr108Cys)	not provided [RCV005071308]	uncertain significance	15	65026927	65026927	Human		name
598125958	CV3883376	deletion	NM_139242.4(MTFMT):c.1022del (p.Thr341fs)	Waardenburg syndrome, IIa 2F [RCV005233247]	likely pathogenic	15	65003210	65003210	Human	1	name
12893886	CV409317	single nucleotide variant	NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe)	not provided [RCV000480605]	likely pathogenic\|conflicting interpretations of pathogenicity	15	65020249	65020249	Human		name
12895457	CV409318	single nucleotide variant	NM_139242.4(MTFMT):c.434T>G (p.Val145Gly)	not provided [RCV000486527]\|not specified [RCV003317232]	likely pathogenic\|uncertain significance	15	65023780	65023780	Human		name
12894433	CV409319	single nucleotide variant	NM_139242.4(MTFMT):c.353A>G (p.Tyr118Cys)	not provided [RCV000482804]	likely pathogenic	15	65026897	65026897	Human		name
8604387	CV48426	single nucleotide variant	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	Combined oxidative phosphorylation defect type 15 [RCV000033047]\|Combined oxidative phosphorylation defect type 15 [RCV002477042]\|Inborn genetic diseases [RCV002513312]\|Leigh syndrome [RCV000190888]\|MTFMT-Related Disorders [RCV005055532]\|MTFMT ... (more) :700;'>MTFMT-related disorder [RCV005256554]\|Mitochondrial complex 1 deficiency, nuclear type 27 [RCV000735417]\|See cases [RCV002251943]\|Short stature [RCV000415235]\|not provided [RCV000320667]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	15	65021533	65021533	Human	11	name , trait , alternate_id
8604388	CV48427	single nucleotide variant	NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter)	Combined oxidative phosphorylation defect type 15 [RCV000033049]\|Combined oxidative phosphorylation defect type 15 [RCV002482939]\|not provided [RCV003556100]	pathogenic\|likely pathogenic	15	65026868	65026868	Human	2	name
8604389	CV48428	single nucleotide variant	NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	Combined oxidative phosphorylation defect type 15 [RCV000033050]	pathogenic\|likely pathogenic	15	65026876	65026876	Human	1	name
8604390	CV48429	single nucleotide variant	NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)	Combined oxidative phosphorylation defect type 15 [RCV000106390]\|Inborn genetic diseases [RCV002514139]\|MTFMT-Related Disorders [RCV004586030]\|Mitochondrial complex 1 deficiency, nuclear type 27 [RCV000033051]\|not provided [RCV000414310]	pathogenic	15	65003238	65003238	Human	3	name , trait
13527646	CV505765	single nucleotide variant	NM_139242.4(MTFMT):c.667T>A (p.Leu223Met)	MTFMT-related disorder [RCV003953080]\|not provided [RCV000960177]\|not specified [RCV000605254]	benign\|likely benign	15	65020251	65020251	Human	1	name , trait , alternate_id
15133580	CV739743	single nucleotide variant	NM_139242.4(MTFMT):c.847A>G (p.Ile283Val)	not provided [RCV000898155]	benign\|likely benign	15	65006158	65006158	Human		name
151879780	CV973965	single nucleotide variant	NM_139242.4(MTFMT):c.520A>G (p.Ile174Val)	not provided [RCV001886304]	uncertain significance	15	65023694	65023694	Human		name
150424987	CV1185021	single nucleotide variant	NM_139242.4(MTFMT):c.1170G>C (p.Ter390Tyr)	not provided [RCV001557394]	uncertain significance	15	65003062	65003062	Human		name
151811868	CV1345404	single nucleotide variant	NM_139242.4(MTFMT):c.1148C>G (p.Ala383Gly)	Inborn genetic diseases [RCV002545862]\|not provided [RCV001878350]	uncertain significance	15	65003084	65003084	Human	1	name
151763363	CV1357100	single nucleotide variant	NM_139242.4(MTFMT):c.1035C>G (p.Phe345Leu)	not provided [RCV001970444]	uncertain significance	15	65003197	65003197	Human		name
151713815	CV1476780	single nucleotide variant	NM_139242.4(MTFMT):c.1049T>A (p.Leu350Ter)	not provided [RCV001908553]	uncertain significance	15	65003183	65003183	Human		name
151765858	CV1485885	single nucleotide variant	NM_139242.4(MTFMT):c.1010A>G (p.Lys337Arg)	Inborn genetic diseases [RCV002545433]\|not provided [RCV002044769]	likely benign\|uncertain significance	15	65003222	65003222	Human	1	name
151810530	CV1516462	single nucleotide variant	NM_139242.4(MTFMT):c.1063C>G (p.Gln355Glu)	Combined oxidative phosphorylation defect type 15 [RCV005397244]\|not provided [RCV002012390]	uncertain significance	15	65003169	65003169	Human	2	name
156014356	CV1912652	single nucleotide variant	NM_139242.4(MTFMT):c.1120A>G (p.Thr374Ala)	not provided [RCV002619067]	uncertain significance	15	65003112	65003112	Human		name
156387302	CV1986737	single nucleotide variant	NM_139242.4(MTFMT):c.1112G>A (p.Arg371Lys)	Inborn genetic diseases [RCV004065809]\|not provided [RCV002634699]	uncertain significance	15	65003120	65003120	Human	1	name
243054373	CV2410375	single nucleotide variant	NM_139242.4(MTFMT):c.1073C>G (p.Ser358Cys)	not provided [RCV003131615]	uncertain significance	15	65003159	65003159	Human		name
401827997	CV2744369	single nucleotide variant	NM_139242.4(MTFMT):c.1163T>G (p.Ile388Ser)	not provided [RCV003327766]	uncertain significance	15	65003069	65003069	Human		name
597663920	CV3564452	single nucleotide variant	NM_139242.4(MTFMT):c.1117C>T (p.Pro373Ser)	Inborn genetic diseases [RCV004947215]	uncertain significance	15	65003115	65003115	Human	1	name
597663938	CV3564456	single nucleotide variant	NM_139242.4(MTFMT):c.1055C>T (p.Pro352Leu)	Inborn genetic diseases [RCV004947218]	uncertain significance	15	65003177	65003177	Human	1	name
597701146	CV3564457	single nucleotide variant	NM_139242.4(MTFMT):c.1018C>G (p.Leu340Val)	Inborn genetic diseases [RCV004956655]	uncertain significance	15	65003214	65003214	Human	1	name
597836124	CV3828365	single nucleotide variant	NM_139242.4(MTFMT):c.1108C>T (p.Leu370Phe)	not provided [RCV005171257]	uncertain significance	15	65003124	65003124	Human		name
38597001	CV801897	single nucleotide variant	NM_139242.4(MTFMT):c.1094G>A (p.Cys365Tyr)	Microcephaly [RCV001252770]\|not provided [RCV001585914]	conflicting interpretations of pathogenicity\|uncertain significance	15	65003138	65003138	Human	2	name
38597051	CV801898	single nucleotide variant	NM_139242.4(MTFMT):c.1040A>G (p.Asn347Ser)	Microcephaly [RCV001252864]	uncertain significance	15	65003192	65003192	Human	2	name
40886925	CV973964	single nucleotide variant	NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)	Combined oxidative phosphorylation defect type 15 [RCV005394892]\|Inborn genetic diseases [RCV001266247]\|not provided [RCV001713076]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	65003103	65003103	Human	3	name
8689260	CV137060	deletion	NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)	Combined oxidative phosphorylation defect type 15 [RCV000119835]\|not provided [RCV000513541]	pathogenic\|likely pathogenic	15	65029461	65029468	Human	1	name
156434567	CV1940111	microsatellite	NM_139242.4(MTFMT):c.219AGA[2] (p.Glu76del)	not provided [RCV003104523]	uncertain significance	15	65027023	65027025	Human		name
13213447	CV429712	deletion	NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)	Combined oxidative phosphorylation defect type 15 [RCV000499928]\|not provided [RCV003558416]	pathogenic	15	65027028	65027031	Human	1	name
151777701	CV1466576	deletion	NM_139242.4(MTFMT):c.690_693del (p.Arg231fs)	not provided [RCV001896945]	pathogenic	15	65020225	65020228	Human		name
156229582	CV2074847	deletion	NM_139242.4(MTFMT):c.632_633del (p.Leu211fs)	not provided [RCV002829998]	pathogenic	15	65021526	65021527	Human		name
126728613	CV1017956	microsatellite	NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del)	Combined oxidative phosphorylation defect type 15 [RCV001332911]\|Combined oxidative phosphorylation defect type 15 [RCV002493728]\|not provided [RCV001655714]	uncertain significance	15	65003101	65003103	Human		name
126730791	CV1021353	indel	NM_139242.4(MTFMT):c.38_49delinsC (p.Leu13fs)	not provided [RCV003036675]	pathogenic	15	65029565	65029576	Human		name
13528338	CV497470	deletion	NM_139242.4(MTFMT):c.1100_1101del (p.Phe367fs)	Mitochondrial oxidative phosphorylation disorder [RCV000604327]\|not provided [RCV001783110]	pathogenic\|likely pathogenic	15	65003131	65003132	Human	1	name
401725337	CV2735864	indel	NM_139242.4(MTFMT):c.834_835delinsAT (p.Trp278_Met279delinsTer)	not provided [RCV003312307]	pathogenic	15	65006170	65006171	Human		name

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