Ndufs8 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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148 records found for search term Ndufs8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150486013	CV1274088	single nucleotide variant	NM_002496.4(NDUFS8):c.*1C>T	not provided [RCV001698852]	likely benign	11	68036594	68036594	Human		name
8692236	CV142202	single nucleotide variant	NM_002496.4(NDUFS8):c.-45A>C	Leigh syndrome [RCV001108402]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001108401]\|not provided [RCV004704982]\|not specified [RCV000127164]	benign\|likely benign	11	68030689	68030689	Human	2	name
11653406	CV314910	single nucleotide variant	NM_002496.3(NDUFS8):c.-98G>A	Leigh syndrome [RCV000310649]\|Mitochondrial complex I deficiency [RCV000365206]	uncertain significance	11	68030636	68030636	Human	2	name
11600632	CV314917	single nucleotide variant	NM_002496.3(NDUFS8):c.-76C>T	Leigh syndrome [RCV000275260]\|Mitochondrial complex I deficiency [RCV000330456]	uncertain significance	11	68030658	68030658	Human	2	name
11650213	CV314925	single nucleotide variant	NM_002496.4(NDUFS8):c.*26T>G	Leigh syndrome [RCV000291771]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000381321]	uncertain significance	11	68036619	68036619	Human	2	name
11602725	CV314927	single nucleotide variant	NM_002496.4(NDUFS8):c.*44C>T	Leigh syndrome [RCV000352578]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000293152]	uncertain significance	11	68036637	68036637	Human	2	name
405259934	CV3195259	single nucleotide variant	NM_002496.4(NDUFS8):c.*10G>A	NDUFS8-related disorder [RCV003894454]	likely benign	11	68036603	68036603	Human		name , trait , alternate_id
11665664	CV321722	single nucleotide variant	NM_002496.4(NDUFS8):c.*14C>T	Leigh syndrome [RCV000285968]\|Mitochondrial complex I deficiency [RCV000326666]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001114885]\|Osteopetrosis [RCV000313524]\|not provided [RCV001653506]	benign\|likely benign	11	68036607	68036607	Human	5	name
11666456	CV321729	single nucleotide variant	NM_002496.4(NDUFS8):c.*40A>G	Leigh syndrome [RCV000346629]\|Mitochondrial complex I deficiency [RCV000399461]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001109242]\|Osteopetrosis [RCV000370635]\|not provided [RCV001660604]	benign\|likely benign\|uncertain significance	11	68036633	68036633	Human	5	name
12836529	CV374257	single nucleotide variant	NM_002496.4(NDUFS8):c.*19C>T	not provided [RCV001703471]	likely benign	11	68036612	68036612	Human		name
150459298	CV1202905	single nucleotide variant	NM_002496.4(NDUFS8):c.1-35C>T	not provided [RCV001586558]	likely benign	11	68032117	68032117	Human		name
150418369	CV1198241	single nucleotide variant	NM_002496.4(NDUFS8):c.-1+38G>C	not provided [RCV001576712]	likely benign	11	68030771	68030771	Human		name
150434093	CV1230702	single nucleotide variant	NM_002496.4(NDUFS8):c.59-22C>G	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001779274]\|not provided [RCV001643648]	benign	11	68032264	68032264	Human	1	name
150454118	CV1260612	single nucleotide variant	NM_002496.4(NDUFS8):c.1-139G>C	not provided [RCV001681105]	benign	11	68032013	68032013	Human		name
156414957	CV1964781	single nucleotide variant	NM_002496.4(NDUFS8):c.59-17C>T	not provided [RCV002588898]	benign	11	68032269	68032269	Human		name
401872484	CV2749655	single nucleotide variant	NM_002496.4(NDUFS8):c.502-3C>T	not provided [RCV003332783]	uncertain significance	11	68036459	68036459	Human		name
405254104	CV3045283	single nucleotide variant	NM_002496.4(NDUFS8):c.373-4G>A	not provided [RCV003722852]	likely benign	11	68036249	68036249	Human		name
405281141	CV3223921	single nucleotide variant	NM_002496.4(NDUFS8):c.372+1G>A	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003988300]	likely pathogenic	11	68033284	68033284	Human	1	name
11615100	CV327803	single nucleotide variant	NM_002496.4(NDUFS8):c.199+5G>A	Leigh syndrome [RCV000282341]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000337029]	uncertain significance	11	68033017	68033017	Human	2	name
407429211	CV3413598	single nucleotide variant	NM_002496.4(NDUFS8):c.501+5G>A	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV004595007]	likely pathogenic	11	68036386	68036386	Human	1	name
12842995	CV372564	single nucleotide variant	NM_002496.4(NDUFS8):c.200-8G>T	not provided [RCV002059726]\|not specified [RCV000435423]	likely benign	11	68033103	68033103	Human		name
12905518	CV413319	single nucleotide variant	NM_002496.4(NDUFS8):c.373-5C>T	NDUFS8-related disorder [RCV003902735]\|not provided [RCV000487603]	likely benign\|uncertain significance	11	68036248	68036248	Human	1	name , trait , alternate_id
15133370	CV775869	single nucleotide variant	NM_002496.4(NDUFS8):c.59-10C>G	not provided [RCV000942556]	likely benign	11	68032276	68032276	Human		name
152043030	CV1619755	single nucleotide variant	NM_002496.4(NDUFS8):c.110-10C>T	not provided [RCV002188508]	likely benign	11	68032913	68032913	Human		name
156412293	CV1966975	single nucleotide variant	NM_002496.4(NDUFS8):c.501+16G>A	not provided [RCV002608499]	likely benign	11	68036397	68036397	Human		name
156090521	CV1994295	single nucleotide variant	NM_002496.4(NDUFS8):c.372+17A>G	not provided [RCV002639203]	likely benign	11	68033300	68033300	Human		name
156131324	CV2037464	single nucleotide variant	NM_002496.4(NDUFS8):c.200-13G>A	not provided [RCV002800624]	likely benign	11	68033098	68033098	Human		name
402503875	CV2879906	single nucleotide variant	NM_002496.4(NDUFS8):c.110-20C>G	not provided [RCV003546182]	likely benign	11	68032903	68032903	Human		name
405049586	CV3028961	single nucleotide variant	NM_002496.4(NDUFS8):c.502-11T>G	not provided [RCV003696794]	likely benign	11	68036451	68036451	Human		name
11609406	CV314922	single nucleotide variant	NM_002496.4(NDUFS8):c.501+12C>G	Leigh syndrome [RCV000367973]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000390827]\|not provided [RCV002056233]	likely benign\|uncertain significance	11	68036393	68036393	Human	2	name
11607354	CV321712	single nucleotide variant	NM_002496.4(NDUFS8):c.200-14C>T	Leigh syndrome [RCV000342747]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000401109]\|not provided [RCV002520746]	likely benign\|uncertain significance	11	68033097	68033097	Human	2	name
11598875	CV321716	single nucleotide variant	NM_002496.4(NDUFS8):c.502-10C>T	Leigh syndrome [RCV000315895]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000260796]\|NDUFS8-related disorder [RCV003950032]\|not provided [RCV000898642]\|not specified [RCV000602666]	likely benign\|uncertain significance	11	68036452	68036452	Human	4	name , trait , alternate_id
11618512	CV327807	single nucleotide variant	NM_002496.4(NDUFS8):c.502-13C>T	Leigh syndrome [RCV000369510]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000314847]\|not provided [RCV002056234]\|not specified [RCV000427186]	benign\|likely benign\|uncertain significance	11	68036449	68036449	Human	2	name
11615129	CV328891	single nucleotide variant	NM_002496.4(NDUFS8):c.199+15T>G	Leigh syndrome [RCV000283040]\|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001778899]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000377576]\|not provided [RCV001515841]	benign	11	68033027	68033027	Human	4	name
12833773	CV372561	single nucleotide variant	NM_002496.4(NDUFS8):c.110-11C>T	not provided [RCV002519553]\|not specified [RCV000419159]	likely benign	11	68032912	68032912	Human		name
12846759	CV372562	single nucleotide variant	NM_002496.4(NDUFS8):c.199+15T>A	not provided [RCV002062376]\|not specified [RCV000442240]	benign\|likely benign	11	68033027	68033027	Human		name
12838398	CV372566	single nucleotide variant	NM_002496.4(NDUFS8):c.372+11G>T	not specified [RCV000426890]	likely benign	11	68033294	68033294	Human		name
13535151	CV504341	microsatellite	NM_002496.4(NDUFS8):c.-16GCG[2]	not specified [RCV000602140]	likely benign	11	68030718	68030720	Human		name
150422446	CV1180868	single nucleotide variant	NM_002496.4(NDUFS8):c.110-284C>T	not provided [RCV001552647]	likely benign	11	68032639	68032639	Human		name
150434853	CV1244054	duplication	NM_002496.4(NDUFS8):c.373-211dup	not provided [RCV001665261]	benign	11	68036017	68036018	Human		name
150445689	CV1278194	single nucleotide variant	NM_002496.4(NDUFS8):c.109+123T>C	not provided [RCV001707337]	benign	11	68032459	68032459	Human		name
14719939	CV665168	single nucleotide variant	NM_002496.4(NDUFS8):c.373-267T>G	not provided [RCV000831000]	benign	11	68035986	68035986	Human		name
405873519	CV3398602	deletion	NM_002496.4(NDUFS8):c.220_372+130del	not provided [RCV004576098]	likely pathogenic	11	68033125	68033407	Human		name
156419928	CV1967763	single nucleotide variant	NM_002496.4(NDUFS8):c.18G>A (p.Thr6=)	not provided [RCV002613175]	likely benign	11	68032169	68032169	Human		name
156415460	CV1958520	single nucleotide variant	NM_002496.4(NDUFS8):c.84C>T (p.His28=)	not provided [RCV002589182]	likely benign	11	68032311	68032311	Human		name
10411061	CV211564	single nucleotide variant	NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)	Inborn genetic diseases [RCV002517245]\|Leigh syndrome [RCV000765008]\|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003458354]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001108403]\|NDUFS8-related disorder [RCV003907737]\|not provided [RCV00072 ... (more) 6015]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68032155	68032155	Human	5	name , trait , alternate_id
405166680	CV2857620	single nucleotide variant	NM_002496.4(NDUFS8):c.78C>T (p.Ser26=)	not provided [RCV003541842]	likely benign	11	68032305	68032305	Human		name
405046750	CV3154526	single nucleotide variant	NM_002496.4(NDUFS8):c.1A>G (p.Met1Val)	not provided [RCV003849202]	uncertain significance	11	68032152	68032152	Human		name
405806713	CV3345558	single nucleotide variant	NM_002496.4(NDUFS8):c.5G>T (p.Arg2Leu)	Inborn genetic diseases [RCV004480345]	uncertain significance	11	68032156	68032156	Human	1	name
28899037	CV868424	single nucleotide variant	NM_002496.4(NDUFS8):c.5G>A (p.Arg2His)	Leigh syndrome [RCV001103231]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103230]	uncertain significance	11	68032156	68032156	Human	2	name
152122647	CV1613444	single nucleotide variant	NM_002496.4(NDUFS8):c.273G>A (p.Leu91=)	not provided [RCV002154455]	likely benign	11	68033184	68033184	Human		name
152069319	CV1640156	single nucleotide variant	NM_002496.4(NDUFS8):c.243C>A (p.Thr81=)	not provided [RCV002147858]	likely benign	11	68033154	68033154	Human		name
156035737	CV1921355	single nucleotide variant	NM_002496.4(NDUFS8):c.223C>T (p.Leu75=)	not provided [RCV002620043]	likely benign	11	68033134	68033134	Human		name
156193547	CV1974670	single nucleotide variant	NM_002496.4(NDUFS8):c.132C>T (p.Pro44=)	not provided [RCV002625496]	likely benign	11	68032945	68032945	Human		name
156148504	CV2022950	single nucleotide variant	NM_002496.4(NDUFS8):c.297T>C (p.His99=)	not provided [RCV002741148]	likely benign	11	68033208	68033208	Human		name
156143517	CV2090770	single nucleotide variant	NM_002496.4(NDUFS8):c.216G>A (p.Leu72=)	not provided [RCV002890394]	likely benign	11	68033127	68033127	Human		name
404999245	CV3008983	single nucleotide variant	NM_002496.4(NDUFS8):c.201C>T (p.Gly67=)	not provided [RCV003693009]	likely benign	11	68033112	68033112	Human		name
12841046	CV374250	single nucleotide variant	NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	Leigh syndrome [RCV001111480]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001111479]\|NDUFS8-related disorder [RCV003912624]\|not provided [RCV000676967]\|not specified [RCV000431887]	benign\|likely benign\|uncertain significance	11	68033166	68033166	Human	4	name , trait , alternate_id
13529190	CV503741	single nucleotide variant	NM_002496.4(NDUFS8):c.237G>A (p.Pro79=)	not provided [RCV005056276]\|not specified [RCV000600231]	likely benign	11	68033148	68033148	Human		name
15150961	CV752888	single nucleotide variant	NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)	Leigh syndrome [RCV001103232]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001103233]\|not provided [RCV000923575]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	68032170	68032170	Human	2	name
126736261	CV1020928	single nucleotide variant	NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu)	Leigh syndrome [RCV001335040]\|not provided [RCV002547333]	uncertain significance	11	68032204	68032204	Human	1	name
150481829	CV1222231	deletion	NM_002496.4(NDUFS8):c.373-221_373-211del	not provided [RCV001617029]	benign	11	68036018	68036028	Human		name
151890062	CV1343777	single nucleotide variant	NM_002496.4(NDUFS8):c.85A>G (p.Ser29Gly)	not provided [RCV001942945]	uncertain significance	11	68032312	68032312	Human		name
152109516	CV1563891	single nucleotide variant	NM_002496.4(NDUFS8):c.318C>T (p.Ser106=)	not provided [RCV002174156]	likely benign	11	68033229	68033229	Human		name
152084907	CV1645125	single nucleotide variant	NM_002496.4(NDUFS8):c.591C>T (p.Ala197=)	not provided [RCV002131305]	likely benign	11	68036551	68036551	Human		name
156340556	CV1961666	single nucleotide variant	NM_002496.4(NDUFS8):c.495C>T (p.Ile165=)	not provided [RCV002580483]	likely benign\|uncertain significance	11	68036375	68036375	Human		name
156227901	CV1991651	single nucleotide variant	NM_002496.4(NDUFS8):c.600C>T (p.Ala200=)	not provided [RCV002626685]	likely benign	11	68036560	68036560	Human		name
156037358	CV2047704	single nucleotide variant	NM_002496.4(NDUFS8):c.53G>A (p.Arg18His)	not provided [RCV002781361]	uncertain significance	11	68032204	68032204	Human		name
10409760	CV211565	single nucleotide variant	NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser)	Leigh syndrome [RCV000389629]\|Mitochondrial complex I deficiency [RCV000276295]\|not provided [RCV001731428]	likely benign\|uncertain significance	11	68032291	68032291	Human	2	name
156333291	CV2335961	single nucleotide variant	NM_002496.4(NDUFS8):c.32G>A (p.Arg11Gln)	Inborn genetic diseases [RCV002964432]	uncertain significance	11	68032183	68032183	Human	1	name
405074721	CV2941272	single nucleotide variant	NM_002496.4(NDUFS8):c.405T>C (p.Asp135=)	not provided [RCV003664141]	likely benign	11	68036285	68036285	Human		name
405141656	CV3026401	single nucleotide variant	NM_002496.4(NDUFS8):c.426C>G (p.Arg142=)	not provided [RCV003702562]	likely benign	11	68036306	68036306	Human		name
11604369	CV321713	single nucleotide variant	NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)	Leigh syndrome [RCV000308579]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000390917]\|not provided [RCV000907728]	benign\|likely benign\|uncertain significance	11	68036339	68036339	Human	2	name
11599491	CV321719	single nucleotide variant	NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)	Leigh syndrome [RCV000356692]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000265926]\|not provided [RCV001718621]	benign\|likely benign\|uncertain significance	11	68036557	68036557	Human	2	name
407425091	CV3409347	single nucleotide variant	NM_002496.4(NDUFS8):c.417G>C (p.Arg139=)	not provided [RCV004585278]	likely benign	11	68036297	68036297	Human		name
407425093	CV3409348	single nucleotide variant	NM_002496.4(NDUFS8):c.423C>G (p.Thr141=)	not provided [RCV004585279]	likely benign	11	68036303	68036303	Human		name
407425095	CV3409349	single nucleotide variant	NM_002496.4(NDUFS8):c.429T>C (p.Tyr143=)	not provided [RCV004585280]	likely benign	11	68036309	68036309	Human		name
407425097	CV3409350	single nucleotide variant	NM_002496.4(NDUFS8):c.456C>T (p.Tyr152=)	not provided [RCV004585281]	likely benign	11	68036336	68036336	Human		name
12848456	CV371640	single nucleotide variant	NM_002496.4(NDUFS8):c.573C>T (p.Asn191=)	not provided [RCV000964211]	likely benign	11	68036533	68036533	Human		name
12847559	CV374253	single nucleotide variant	NM_002496.4(NDUFS8):c.300G>A (p.Ala100=)	NDUFS8-related disorder [RCV004757230]\|not provided [RCV000910288]	likely benign	11	68033211	68033211	Human	1	name , trait , alternate_id
12840772	CV374256	single nucleotide variant	NM_002496.4(NDUFS8):c.576G>T (p.Gly192=)	not specified [RCV000431345]	likely benign	11	68036536	68036536	Human		name
597934062	CV3793519	single nucleotide variant	NM_002496.4(NDUFS8):c.378C>T (p.Ile126=)	not provided [RCV005132175]	likely benign	11	68036258	68036258	Human		name
8627111	CV82255	single nucleotide variant	NM_002496.3(NDUFS8):c.492C>T (p.Ala164=)	Malignant melanoma [RCV000062334]	not provided	11	68036372	68036372	Human		name
8634323	CV89543	single nucleotide variant	NM_002496.3(NDUFS8):c.79C>T (p.Leu27Phe)	Malignant melanoma [RCV000069640]	not provided	11	68032306	68032306	Human		name
155794815	CV1861040	single nucleotide variant	NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV002468753]	likely pathogenic	11	68032983	68032983	Human	1	name
156078680	CV1908798	single nucleotide variant	NM_002496.4(NDUFS8):c.169C>T (p.Arg57Cys)	not provided [RCV002591503]	uncertain significance	11	68032982	68032982	Human		name
156279481	CV1954833	single nucleotide variant	NM_002496.4(NDUFS8):c.161G>A (p.Arg54Gln)	Inborn genetic diseases [RCV003289525]\|not provided [RCV002577432]	uncertain significance	11	68032974	68032974	Human	1	name
156124801	CV1962635	single nucleotide variant	NM_002496.4(NDUFS8):c.159C>A (p.Asp53Glu)	not provided [RCV002572003]	uncertain significance	11	68032972	68032972	Human		name
156317943	CV2137851	single nucleotide variant	NM_002496.4(NDUFS8):c.185C>G (p.Thr62Ser)	not provided [RCV002963015]	uncertain significance	11	68032998	68032998	Human		name
156364409	CV2167033	deletion	NM_002496.4(NDUFS8):c.605del (p.Asn202fs)	not provided [RCV003031785]	uncertain significance	11	68036564	68036564	Human		name
8559967	CV22550	single nucleotide variant	NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)	Leigh syndrome [RCV000762861]\|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007941]\|not provided [RCV000442702]	pathogenic\|likely pathogenic	11	68033147	68033147	Human	2	name
8559969	CV22552	single nucleotide variant	NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007943]	pathogenic	11	68033165	68033165	Human	1	name
401797499	CV2742269	single nucleotide variant	NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003324450]	pathogenic	11	68032973	68032973	Human	1	name
11618751	CV328888	single nucleotide variant	NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys)	Leigh syndrome [RCV000372098]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000317408]	uncertain significance	11	68032946	68032946	Human	2	name
407427876	CV3412174	single nucleotide variant	NM_002496.4(NDUFS8):c.121A>C (p.Met41Leu)	not provided [RCV004592345]	uncertain significance	11	68032934	68032934	Human		name
408393191	CV3528390	single nucleotide variant	NM_002496.4(NDUFS8):c.197G>C (p.Arg66Pro)	not provided [RCV004776158]	uncertain significance	11	68033010	68033010	Human		name
597720944	CV3555645	single nucleotide variant	NM_002496.4(NDUFS8):c.230G>A (p.Arg77Gln)	Inborn genetic diseases [RCV004961501]	uncertain significance	11	68033141	68033141	Human	1	name
12844334	CV374243	single nucleotide variant	NM_002496.4(NDUFS8):c.170G>A (p.Arg57His)	not provided [RCV002524834]\|not specified [RCV000437809]	likely benign\|uncertain significance	11	68032983	68032983	Human		name
598234102	CV3893628	single nucleotide variant	NM_002496.4(NDUFS8):c.111G>C (p.Lys37Asn)	not provided [RCV005256361]	uncertain significance	11	68032924	68032924	Human		name
12912770	CV421881	single nucleotide variant	NM_002496.4(NDUFS8):c.292G>A (p.Glu98Lys)	not provided [RCV000492994]	likely pathogenic	11	68033203	68033203	Human		name
8570664	CV48432	single nucleotide variant	NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000033054]\|not provided [RCV000523226]	pathogenic\|uncertain significance	11	68033140	68033140	Human	1	name
8570666	CV48434	single nucleotide variant	NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000033056]	pathogenic	11	68033000	68033000	Human	1	name
28912006	CV868692	single nucleotide variant	NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu)	Leigh syndrome [RCV001111481]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001111482]	uncertain significance	11	68033180	68033180	Human	2	name
150545032	CV1292979	single nucleotide variant	NM_002496.4(NDUFS8):c.347T>C (p.Leu116Pro)	not provided [RCV001762765]	uncertain significance	11	68033258	68033258	Human		name
150553213	CV1298249	single nucleotide variant	NM_002496.4(NDUFS8):c.592G>A (p.Glu198Lys)	not provided [RCV001768863]	uncertain significance	11	68036552	68036552	Human		name
150554466	CV1304166	single nucleotide variant	NM_002496.4(NDUFS8):c.328C>T (p.Arg110Cys)	not provided [RCV001771136]	uncertain significance	11	68033239	68033239	Human		name
151832396	CV1356121	single nucleotide variant	NM_002496.4(NDUFS8):c.605A>C (p.Asn202Thr)	not provided [RCV002030935]	uncertain significance	11	68036565	68036565	Human		name
151871114	CV1413581	single nucleotide variant	NM_002496.4(NDUFS8):c.380C>T (p.Thr127Ile)	not provided [RCV001998349]	uncertain significance	11	68036260	68036260	Human		name
151773653	CV1424049	single nucleotide variant	NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003107938]\|not provided [RCV002025602]	uncertain significance	11	68036545	68036545	Human	1	name
151734532	CV1497850	single nucleotide variant	NM_002496.4(NDUFS8):c.457T>C (p.Cys153Arg)	not provided [RCV001984552]	uncertain significance	11	68036337	68036337	Human		name
152999775	CV1683336	single nucleotide variant	NM_002496.4(NDUFS8):c.454T>C (p.Tyr152His)	See cases [RCV002252520]	uncertain significance	11	68036334	68036334	Human		name
155643005	CV1707642	single nucleotide variant	NM_002496.4(NDUFS8):c.499G>A (p.Glu167Lys)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV002289103]	uncertain significance	11	68036379	68036379	Human	1	name
155796950	CV1863081	single nucleotide variant	NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV002470355]	uncertain significance	11	68033236	68033236	Human	1	name
156388625	CV1955107	single nucleotide variant	NM_002496.4(NDUFS8):c.416G>A (p.Arg139Gln)	not provided [RCV002583678]	uncertain significance	11	68036296	68036296	Human		name
156037350	CV2002711	single nucleotide variant	NM_002496.4(NDUFS8):c.551A>T (p.Asn184Ile)	not provided [RCV002658899]	uncertain significance	11	68036511	68036511	Human		name
156396736	CV2012427	single nucleotide variant	NM_002496.4(NDUFS8):c.412C>T (p.Arg138Cys)	not provided [RCV002725619]	uncertain significance	11	68036292	68036292	Human		name
10409319	CV211566	single nucleotide variant	NM_002496.4(NDUFS8):c.313C>T (p.Pro105Ser)	not provided [RCV000195877]	likely pathogenic\|uncertain significance	11	68033224	68033224	Human		name
10410243	CV211567	single nucleotide variant	NM_002496.4(NDUFS8):c.428A>T (p.Tyr143Phe)	not provided [RCV000197784]	likely pathogenic	11	68036308	68036308	Human		name
10409385	CV211568	single nucleotide variant	NM_002496.3(NDUFS8):c.481C>A (p.Pro161Thr)	not provided [RCV000196020]	likely pathogenic	11	68036361	68036361	Human		name
10410288	CV211569	single nucleotide variant	NM_002496.4(NDUFS8):c.611A>T (p.Gln204Leu)	not provided [RCV000197878]	uncertain significance	11	68036571	68036571	Human		name
10405972	CV213613	single nucleotide variant	NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)	Leigh syndrome [RCV000200148]\|not provided [RCV001853220]	pathogenic\|likely pathogenic\|uncertain significance	11	68033254	68033254	Human	1	name
156313227	CV2143842	single nucleotide variant	NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003108141]\|not provided [RCV003011235]	likely pathogenic\|uncertain significance	11	68033218	68033218	Human	1	name
156202375	CV2163598	single nucleotide variant	NM_002496.4(NDUFS8):c.371A>G (p.Gln124Arg)	not provided [RCV003042017]	uncertain significance	11	68033282	68033282	Human		name
156259646	CV2216249	single nucleotide variant	NM_002496.4(NDUFS8):c.392A>G (p.Glu131Gly)	Inborn genetic diseases [RCV002702945]	uncertain significance	11	68036272	68036272	Human	1	name
156033070	CV2236154	single nucleotide variant	NM_002496.4(NDUFS8):c.415C>T (p.Arg139Trp)	Inborn genetic diseases [RCV002758211]	uncertain significance	11	68036295	68036295	Human	1	name
8559968	CV22551	single nucleotide variant	NM_002496.4(NDUFS8):c.305G>A (p.Arg102His)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007942]\|not provided [RCV000426335]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	68033216	68033216	Human	1	name
8559970	CV22553	single nucleotide variant	NM_002496.4(NDUFS8):c.413G>A (p.Arg138His)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000007944]\|not provided [RCV002512884]	pathogenic\|likely pathogenic\|uncertain significance	11	68036293	68036293	Human	1	name
156149022	CV2394543	single nucleotide variant	NM_002496.4(NDUFS8):c.628C>T (p.Arg210Trp)	Inborn genetic diseases [RCV002764002]	uncertain significance	11	68036588	68036588	Human	1	name
243064005	CV2410658	single nucleotide variant	NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)	Inborn genetic diseases [RCV003269547]\|Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003142644]	uncertain significance	11	68033278	68033278	Human	2	name
329393711	CV2449808	single nucleotide variant	NM_002496.4(NDUFS8):c.308G>A (p.Arg103Gln)	Inborn genetic diseases [RCV003193309]	uncertain significance	11	68033219	68033219	Human	1	name
404998843	CV2850589	single nucleotide variant	NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV003493105]	uncertain significance	11	68033240	68033240	Human	1	name
405006757	CV3117544	single nucleotide variant	NM_002496.4(NDUFS8):c.319G>A (p.Gly107Arg)	not provided [RCV003828599]	uncertain significance	11	68033230	68033230	Human		name
11604305	CV314921	single nucleotide variant	NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)	Leigh syndrome [RCV000307867]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000344135]\|not provided [RCV000490220]	likely pathogenic\|uncertain significance	11	68033210	68033210	Human	2	name
11619045	CV328894	single nucleotide variant	NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)	Leigh syndrome [RCV000380344]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV000321000]\|not provided [RCV002520747]	uncertain significance	11	68036558	68036558	Human	2	name
405871857	CV3398107	single nucleotide variant	NM_002496.4(NDUFS8):c.376A>G (p.Ile126Val)	not provided [RCV004575108]	likely pathogenic	11	68036256	68036256	Human		name
408393172	CV3525487	single nucleotide variant	NM_002496.4(NDUFS8):c.424C>T (p.Arg142Cys)	not provided [RCV004771373]	uncertain significance	11	68036304	68036304	Human		name
596931224	CV3531557	single nucleotide variant	NM_002496.4(NDUFS8):c.329G>T (p.Arg110Leu)	not provided [RCV004781119]	uncertain significance	11	68033240	68033240	Human		name
597720937	CV3555644	single nucleotide variant	NM_002496.4(NDUFS8):c.367G>A (p.Ala123Thr)	Inborn genetic diseases [RCV004961500]	uncertain significance	11	68033278	68033278	Human	1	name
597895823	CV3810456	single nucleotide variant	NM_002496.4(NDUFS8):c.548A>G (p.Tyr183Cys)	not provided [RCV005151981]	uncertain significance	11	68036508	68036508	Human		name
598125965	CV3883380	single nucleotide variant	NM_002496.4(NDUFS8):c.304C>T (p.Arg102Cys)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV005233251]	likely pathogenic	11	68033215	68033215	Human	1	name
598125967	CV3883381	single nucleotide variant	NM_002496.4(NDUFS8):c.342C>A (p.Cys114Ter)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV005233252]	likely pathogenic	11	68033253	68033253	Human	1	name
12913355	CV421882	single nucleotide variant	NM_002496.4(NDUFS8):c.436G>A (p.Asp146Asn)	not provided [RCV000493719]	likely pathogenic	11	68036316	68036316	Human		name
13462662	CV439278	single nucleotide variant	NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001027993]\|not provided [RCV000514571]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	68036340	68036340	Human	1	name
13508733	CV481429	single nucleotide variant	NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)	Leigh syndrome [RCV000578254]\|not provided [RCV001815416]	likely pathogenic	11	68036321	68036321	Human	1	name
8570665	CV48433	single nucleotide variant	NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV000033055]	pathogenic	11	68036356	68036356	Human	1	name
13592700	CV513317	single nucleotide variant	NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)	Leigh syndrome [RCV000625885]	uncertain significance	11	68036364	68036364	Human	1	name
28873178	CV868693	single nucleotide variant	NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg)	Leigh syndrome [RCV001114883]\|Mitochondrial complex I deficiency, nuclear type 1 [RCV001114884]	uncertain significance	11	68036534	68036534	Human	2	name
34890841	CV905865	single nucleotide variant	NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met)	Mitochondrial complex 1 deficiency, nuclear type 2 [RCV001174541]	uncertain significance	11	68036264	68036264	Human	1	name

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