Coq7 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

225 records found for search term Coq7

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150458354	CV1278757	single nucleotide variant	NM_016138.5(COQ7):c.*82C>G	not provided [RCV001709374]	benign	16	19078240	19078240	Human		name
150473729	CV1234329	duplication	NM_016138.5(COQ7):c.*143dup	not provided [RCV001651648]	benign	16	19078288	19078289	Human		name
150534532	CV1306279	single nucleotide variant	NM_016138.5(COQ7):c.*211T>C	not provided [RCV001757468]	likely benign	16	19078369	19078369	Human		name
151712993	CV1371282	single nucleotide variant	NM_016138.5(COQ7):c.73+5A>G	not provided [RCV001908388]	uncertain significance	16	19067742	19067742	Human		name
151710015	CV1372243	single nucleotide variant	NM_016138.5(COQ7):c.73+2T>A	not provided [RCV001964100]	uncertain significance	16	19067739	19067739	Human		name
156350751	CV2122209	single nucleotide variant	NM_016138.5(COQ7):c.73+1G>A	not provided [RCV002966278]	uncertain significance	16	19067738	19067738	Human		name
405015804	CV2995339	single nucleotide variant	NM_016138.5(COQ7):c.73+9A>G	not provided [RCV003694383]	likely benign	16	19067746	19067746	Human		name
404978402	CV3012399	single nucleotide variant	NM_016138.5(COQ7):c.73+7G>A	not provided [RCV003690805]	likely benign	16	19067744	19067744	Human		name
14712832	CV668335	single nucleotide variant	NM_016138.4(COQ7):c.-357A>T	not provided [RCV000828548]	benign	16	19067308	19067308	Human		name
150542330	CV1307734	single nucleotide variant	NM_016138.5(COQ7):c.74-30C>T	not provided [RCV001769509]	likely benign	16	19071898	19071898	Human		name
151872259	CV1480631	single nucleotide variant	NM_016138.5(COQ7):c.576+6G>A	not provided [RCV001906642]	uncertain significance	16	19077380	19077380	Human		name
151727053	CV1498966	single nucleotide variant	NM_016138.5(COQ7):c.508-8T>G	not provided [RCV002040817]	likely benign\|uncertain significance	16	19077298	19077298	Human		name
152102166	CV1523858	single nucleotide variant	NM_016138.5(COQ7):c.368-7A>C	not provided [RCV002133409]	likely benign	16	19075714	19075714	Human		name
152068836	CV1571300	single nucleotide variant	NM_016138.5(COQ7):c.367+7G>T	not provided [RCV002129332]	likely benign	16	19074042	19074042	Human		name
155912105	CV1935294	single nucleotide variant	NM_016138.5(COQ7):c.367+5G>A	Primary coenzyme Q10 deficiency 8 [RCV002510623]	uncertain significance	16	19074040	19074040	Human	1	name
156108573	CV1964660	single nucleotide variant	NM_016138.5(COQ7):c.73+16C>T	not provided [RCV002592685]	likely benign	16	19067753	19067753	Human		name
156323563	CV1988613	single nucleotide variant	NM_016138.5(COQ7):c.367+7G>A	not provided [RCV002649408]	uncertain significance	16	19074042	19074042	Human		name
156006748	CV2064894	single nucleotide variant	NM_016138.5(COQ7):c.73+13G>C	not provided [RCV002843664]	likely benign	16	19067750	19067750	Human		name
155950284	CV2158954	single nucleotide variant	NM_016138.5(COQ7):c.577-3C>T	not provided [RCV003014813]	uncertain significance	16	19078078	19078078	Human		name
156340349	CV2186778	single nucleotide variant	NM_016138.5(COQ7):c.73+13G>A	not provided [RCV003064198]	likely benign	16	19067750	19067750	Human		name
401857746	CV2752203	single nucleotide variant	NM_016138.5(COQ7):c.253-2A>T	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003336609]	pathogenic	16	19073919	19073919	Human	1	name
405166186	CV3018879	single nucleotide variant	NM_016138.5(COQ7):c.74-14C>T	not provided [RCV003704331]	likely benign	16	19071914	19071914	Human		name
405208904	CV3117189	single nucleotide variant	NM_016138.5(COQ7):c.507+7A>T	not provided [RCV003822976]	likely benign	16	19075867	19075867	Human		name
405110876	CV3137228	single nucleotide variant	NM_016138.5(COQ7):c.508-4C>T	not provided [RCV003836191]	likely benign	16	19077302	19077302	Human		name
408384666	CV3504559	single nucleotide variant	NM_016138.5(COQ7):c.252+5G>A	COQ7-related disorder [RCV004732001]	uncertain significance	16	19072111	19072111	Human		name , trait , alternate_id
408367171	CV3516182	single nucleotide variant	NM_016138.5(COQ7):c.252+1G>T	COQ7-related disorder [RCV004757892]	uncertain significance	16	19072107	19072107	Human		name , trait , alternate_id
597955182	CV3754167	single nucleotide variant	NM_016138.5(COQ7):c.73+20C>T	not provided [RCV005080210]	likely benign	16	19067757	19067757	Human		name
597846859	CV3761943	single nucleotide variant	NM_016138.5(COQ7):c.253-7C>T	not provided [RCV005087361]	likely benign	16	19073914	19073914	Human		name
597865880	CV3834382	single nucleotide variant	NM_016138.5(COQ7):c.576+8C>T	not provided [RCV005175749]	likely benign	16	19077382	19077382	Human		name
14745785	CV668160	single nucleotide variant	NM_016138.5(COQ7):c.73+36T>G	Primary coenzyme Q10 deficiency 8 [RCV001664481]\|not provided [RCV000843743]	benign	16	19067773	19067773	Human	1	name
14724364	CV668163	single nucleotide variant	NM_016138.5(COQ7):c.367+4C>T	COQ7-related disorder [RCV003965619]\|not provided [RCV000832950]	benign\|likely benign	16	19074039	19074039	Human	1	name , trait , alternate_id
14745788	CV668337	single nucleotide variant	NM_016138.5(COQ7):c.74-29A>G	Primary coenzyme Q10 deficiency 8 [RCV001664482]\|not provided [RCV000843746]	benign	16	19071899	19071899	Human	1	name
150532735	CV1308090	single nucleotide variant	NM_016138.5(COQ7):c.576+88A>G	not provided [RCV001753080]	likely benign	16	19077462	19077462	Human		name
152046126	CV1525803	single nucleotide variant	NM_016138.5(COQ7):c.507+11G>A	not provided [RCV002126665]	likely benign	16	19075871	19075871	Human		name
152161064	CV1530988	single nucleotide variant	NM_016138.5(COQ7):c.507+10C>T	not provided [RCV002123201]	likely benign	16	19075870	19075870	Human		name
152071962	CV1591716	single nucleotide variant	NM_016138.5(COQ7):c.508-19T>C	not provided [RCV002210094]	likely benign	16	19077287	19077287	Human		name
152150785	CV1598165	single nucleotide variant	NM_016138.5(COQ7):c.367+19G>C	not provided [RCV002121708]	likely benign	16	19074054	19074054	Human		name
152148575	CV1618917	single nucleotide variant	NM_016138.5(COQ7):c.253-19A>G	not provided [RCV002121427]	likely benign	16	19073902	19073902	Human		name
152042364	CV1624226	single nucleotide variant	NM_016138.5(COQ7):c.252+17C>T	not provided [RCV002126254]	likely benign	16	19072123	19072123	Human		name
152117302	CV1645921	single nucleotide variant	NM_016138.5(COQ7):c.507+14C>T	not provided [RCV002175103]	likely benign	16	19075874	19075874	Human		name
156412883	CV1904635	single nucleotide variant	NM_016138.5(COQ7):c.252+10T>G	not provided [RCV002587978]	likely benign	16	19072116	19072116	Human		name
156354978	CV1962321	single nucleotide variant	NM_016138.5(COQ7):c.367+13C>T	not provided [RCV002581327]	likely benign\|uncertain significance	16	19074048	19074048	Human		name
156148164	CV1964000	single nucleotide variant	NM_016138.5(COQ7):c.577-15T>G	not provided [RCV002572810]	likely benign	16	19078066	19078066	Human		name
156414633	CV1982906	single nucleotide variant	NM_016138.5(COQ7):c.367+14T>C	not provided [RCV002609294]	likely benign	16	19074049	19074049	Human		name
156414379	CV1986623	single nucleotide variant	NM_016138.5(COQ7):c.252+18T>G	not provided [RCV002609174]	likely benign	16	19072124	19072124	Human		name
156244286	CV2044650	single nucleotide variant	NM_016138.5(COQ7):c.576+12C>G	not provided [RCV002805783]	likely benign	16	19077386	19077386	Human		name
405100248	CV2944010	single nucleotide variant	NM_016138.5(COQ7):c.576+13T>G	not provided [RCV003665607]	likely benign	16	19077387	19077387	Human		name
405195735	CV3128716	single nucleotide variant	NM_016138.5(COQ7):c.577-17C>G	not provided [RCV003821454]	likely benign	16	19078064	19078064	Human		name
402524156	CV3175775	single nucleotide variant	NM_016138.5(COQ7):c.507+18A>G	not provided [RCV003879875]	likely benign	16	19075878	19075878	Human		name
405260005	CV3190117	duplication	NM_016138.5(COQ7):c.-11_-7dup	COQ7-related disorder [RCV003894520]	uncertain significance	16	19067651	19067652	Human		name , trait , alternate_id
597871764	CV3737303	single nucleotide variant	NM_016138.5(COQ7):c.368-19C>T	not provided [RCV005068749]	likely benign	16	19075702	19075702	Human		name
597913055	CV3740448	single nucleotide variant	NM_016138.5(COQ7):c.252+15A>C	not provided [RCV005073785]	likely benign	16	19072121	19072121	Human		name
597976448	CV3820163	deletion	NM_016138.5(COQ7):c.367+10del	not provided [RCV005169941]	likely benign	16	19074045	19074045	Human		name
597897791	CV3854432	single nucleotide variant	NM_016138.5(COQ7):c.252+16T>A	not provided [RCV005201539]	likely benign	16	19072122	19072122	Human		name
14713696	CV668642	single nucleotide variant	NM_016138.5(COQ7):c.73+111C>A	not provided [RCV000828794]	benign	16	19067848	19067848	Human		name
14745787	CV668645	single nucleotide variant	NM_016138.5(COQ7):c.74-215G>A	not provided [RCV000843745]	benign	16	19071713	19071713	Human		name
150476272	CV1216787	single nucleotide variant	NM_016138.5(COQ7):c.577-287G>A	not provided [RCV001616080]	benign	16	19077794	19077794	Human		name
150455441	CV1246916	single nucleotide variant	NM_016138.5(COQ7):c.252+186A>G	not provided [RCV001668684]	benign	16	19072292	19072292	Human		name
150541751	CV1306532	single nucleotide variant	NM_016138.5(COQ7):c.367+216C>T	not provided [RCV001768155]	likely benign	16	19074251	19074251	Human		name
150542561	CV1307814	single nucleotide variant	NM_016138.5(COQ7):c.252+298A>G	not provided [RCV001769589]	likely benign	16	19072404	19072404	Human		name
150542602	CV1307829	single nucleotide variant	NM_016138.5(COQ7):c.253-191G>A	not provided [RCV001769604]	likely benign	16	19073730	19073730	Human		name
150542633	CV1307840	single nucleotide variant	NM_016138.5(COQ7):c.577-163G>A	not provided [RCV001769615]	likely benign	16	19077918	19077918	Human		name
150532909	CV1308183	duplication	NM_016138.5(COQ7):c.367+208dup	not provided [RCV001753174]	likely benign	16	19074234	19074235	Human		name
14745789	CV667359	single nucleotide variant	NM_016138.5(COQ7):c.252+121C>T	not provided [RCV000843747]	benign	16	19072227	19072227	Human		name
14723734	CV667373	single nucleotide variant	NM_016138.5(COQ7):c.507+240A>G	not provided [RCV000832668]	benign	16	19076100	19076100	Human		name
14725400	CV668338	single nucleotide variant	NM_016138.5(COQ7):c.252+147G>A	not provided [RCV000833423]	likely benign	16	19072253	19072253	Human		name
14745795	CV668340	single nucleotide variant	NM_016138.5(COQ7):c.577-305G>A	not provided [RCV000843755]	benign	16	19077776	19077776	Human		name
156303030	CV2003525	single nucleotide variant	NM_016138.5(COQ7):c.9C>T (p.Cys3=)	not provided [RCV002671249]	likely benign	16	19067673	19067673	Human		name
401796440	CV2740626	deletion	NM_016138.5(COQ7):c.73+83_73+97del	not provided [RCV003321296]	likely benign	16	19067818	19067832	Human		name
151874555	CV1511532	single nucleotide variant	NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003336488]\|Primary coenzyme Q10 deficiency 8 [RCV002246628]\|not provided [RCV001960882]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	19067667	19067667	Human	2	name
156240178	CV1952965	deletion	NM_016138.5(COQ7):c.508-12_508-11del	not provided [RCV002576192]	likely benign	16	19077291	19077292	Human		name
156250738	CV1953883	single nucleotide variant	NM_016138.5(COQ7):c.8G>T (p.Cys3Phe)	not provided [RCV002576530]	uncertain significance	16	19067672	19067672	Human		name
156415190	CV1961875	single nucleotide variant	NM_016138.5(COQ7):c.72A>C (p.Ser24=)	not provided [RCV002589025]	uncertain significance	16	19067736	19067736	Human		name
155912014	CV2021712	single nucleotide variant	NM_016138.5(COQ7):c.43C>T (p.Leu15=)	not provided [RCV002726876]	likely benign	16	19067707	19067707	Human		name
156097153	CV2050926	single nucleotide variant	NM_016138.5(COQ7):c.54G>C (p.Gly18=)	not provided [RCV002824417]	likely benign	16	19067718	19067718	Human		name
156037247	CV2150286	single nucleotide variant	NM_016138.5(COQ7):c.66C>T (p.Ser22=)	not provided [RCV003018920]	likely benign	16	19067730	19067730	Human		name
156119686	CV2183208	single nucleotide variant	NM_016138.5(COQ7):c.60G>T (p.Arg20=)	not provided [RCV003039264]	likely benign	16	19067724	19067724	Human		name
401724051	CV2737952	single nucleotide variant	NM_016138.5(COQ7):c.1A>C (p.Met1Leu)	Primary coenzyme Q10 deficiency 8 [RCV003315124]	likely pathogenic	16	19067665	19067665	Human	1	name
401857748	CV2752202	single nucleotide variant	NM_016138.5(COQ7):c.1A>G (p.Met1Val)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003336608]	pathogenic	16	19067665	19067665	Human	1	name
405241143	CV2901264	single nucleotide variant	NM_016138.5(COQ7):c.58C>A (p.Arg20=)	not provided [RCV003557432]	likely benign	16	19067722	19067722	Human		name
405698168	CV3226946	single nucleotide variant	NM_016138.5(COQ7):c.90C>G (p.Thr30=)	not provided [RCV003993340]	likely benign	16	19071944	19071944	Human		name
407456681	CV3423358	single nucleotide variant	NM_016138.5(COQ7):c.8G>C (p.Cys3Ser)	not specified [RCV004610822]	uncertain significance	16	19067672	19067672	Human		name
597830591	CV3743128	single nucleotide variant	NM_016138.5(COQ7):c.97A>C (p.Arg33=)	not provided [RCV005062136]	likely benign	16	19071951	19071951	Human		name
13827513	CV578525	single nucleotide variant	NM_016138.5(COQ7):c.9C>A (p.Cys3Ter)	Primary coenzyme Q10 deficiency 8 [RCV000714575]	uncertain significance	16	19067673	19067673	Human	1	name
14713692	CV656340	single nucleotide variant	NM_016138.5(COQ7):c.51G>A (p.Pro17=)	not provided [RCV000828793]	benign	16	19067715	19067715	Human		name
8627753	CV82897	single nucleotide variant	NM_016138.4(COQ7):c.5G>A (p.Ser2Asn)	Malignant melanoma [RCV000062977]	not provided	16	19067669	19067669	Human		name
151802747	CV1364605	single nucleotide variant	NM_016138.5(COQ7):c.20C>T (p.Ala7Val)	not provided [RCV001991102]	uncertain significance	16	19067684	19067684	Human		name
151885792	CV1367011	single nucleotide variant	NM_016138.5(COQ7):c.25G>C (p.Ala9Pro)	not provided [RCV002000555]	uncertain significance	16	19067689	19067689	Human		name
151819306	CV1450002	single nucleotide variant	NM_016138.5(COQ7):c.20C>G (p.Ala7Gly)	not provided [RCV001879058]	uncertain significance	16	19067684	19067684	Human		name
152125005	CV1532266	single nucleotide variant	NM_016138.5(COQ7):c.171T>C (p.His57=)	not provided [RCV002118337]	likely benign	16	19072025	19072025	Human		name
156405769	CV1953884	single nucleotide variant	NM_016138.5(COQ7):c.14G>T (p.Gly5Val)	not provided [RCV002585721]	uncertain significance	16	19067678	19067678	Human		name
156409863	CV1961988	single nucleotide variant	NM_016138.5(COQ7):c.177C>T (p.Gly59=)	not provided [RCV002586962]	likely benign	16	19072031	19072031	Human		name
156292549	CV1998267	single nucleotide variant	NM_016138.5(COQ7):c.23C>T (p.Ala8Val)	not provided [RCV002670824]	uncertain significance	16	19067687	19067687	Human		name
156267728	CV2007907	single nucleotide variant	NM_016138.5(COQ7):c.204C>T (p.Ala68=)	not provided [RCV002714874]	likely benign	16	19072058	19072058	Human		name
155969311	CV2077107	single nucleotide variant	NM_016138.5(COQ7):c.219C>A (p.Val73=)	not provided [RCV002863237]	likely benign	16	19072073	19072073	Human		name
156341809	CV2368462	single nucleotide variant	NM_016138.5(COQ7):c.13G>C (p.Gly5Arg)	not specified [RCV004219222]	likely benign	16	19067677	19067677	Human		name
329380551	CV2466681	single nucleotide variant	NM_016138.5(COQ7):c.17C>T (p.Ala6Val)	not specified [RCV004276188]	uncertain significance	16	19067681	19067681	Human		name
405129463	CV3010776	single nucleotide variant	NM_016138.5(COQ7):c.138G>A (p.Arg46=)	not provided [RCV003701541]	likely benign	16	19071992	19071992	Human		name
405221030	CV3060106	single nucleotide variant	NM_016138.5(COQ7):c.219C>G (p.Val73=)	not provided [RCV003733310]	likely benign	16	19072073	19072073	Human		name
402481392	CV3170773	single nucleotide variant	NM_016138.5(COQ7):c.192C>T (p.Asn64=)	not provided [RCV003875975]	likely benign	16	19072046	19072046	Human		name
15147767	CV714784	single nucleotide variant	NM_016138.5(COQ7):c.234C>T (p.Ser78=)	not provided [RCV000967406]	benign	16	19072088	19072088	Human		name
15136554	CV785161	single nucleotide variant	NM_016138.5(COQ7):c.183T>C (p.Tyr61=)	COQ7-related disorder [RCV003943287]\|not provided [RCV000982133]	likely benign	16	19072037	19072037	Human	1	name , trait , alternate_id
150446255	CV1261338	single nucleotide variant	NM_016138.5(COQ7):c.50C>T (p.Pro17Leu)	not provided [RCV001680012]	benign	16	19067714	19067714	Human		name
151848907	CV1346167	single nucleotide variant	NM_016138.5(COQ7):c.53G>A (p.Gly18Glu)	not provided [RCV001978666]	uncertain significance	16	19067717	19067717	Human		name
151839006	CV1382835	single nucleotide variant	NM_016138.5(COQ7):c.53G>C (p.Gly18Ala)	not provided [RCV002031594]	uncertain significance	16	19067717	19067717	Human		name
152086194	CV1589720	single nucleotide variant	NM_016138.5(COQ7):c.364C>T (p.Leu122=)	not provided [RCV002193669]	likely benign	16	19074032	19074032	Human		name
156140929	CV1898526	single nucleotide variant	NM_016138.5(COQ7):c.372G>A (p.Ala124=)	not provided [RCV003082197]	likely benign	16	19075725	19075725	Human		name
156409593	CV1922769	single nucleotide variant	NM_016138.5(COQ7):c.466C>T (p.Leu156=)	not provided [RCV002607603]	likely benign	16	19075819	19075819	Human		name
156108163	CV1953958	single nucleotide variant	NM_016138.5(COQ7):c.591C>T (p.Ala197=)	COQ7-related disorder [RCV003926410]\|not provided [RCV002571098]	likely benign	16	19078095	19078095	Human	1	name , trait , alternate_id
155982409	CV1972501	single nucleotide variant	NM_016138.5(COQ7):c.55G>A (p.Ala19Thr)	not provided [RCV002617662]	uncertain significance	16	19067719	19067719	Human		name
156373793	CV2003761	single nucleotide variant	NM_016138.5(COQ7):c.47G>T (p.Arg16Leu)	not provided [RCV002653119]	uncertain significance	16	19067711	19067711	Human		name
156271558	CV2004171	single nucleotide variant	NM_016138.5(COQ7):c.55G>T (p.Ala19Ser)	not provided [RCV002646549]\|not specified [RCV004066697]	uncertain significance	16	19067719	19067719	Human		name
156015481	CV2010136	deletion	NM_016138.5(COQ7):c.245del (p.Val82fs)	not provided [RCV002735116]	uncertain significance	16	19072099	19072099	Human		name
155916687	CV2029809	single nucleotide variant	NM_016138.5(COQ7):c.65C>T (p.Ser22Phe)	not provided [RCV002750502]	uncertain significance	16	19067729	19067729	Human		name
156193868	CV2038113	single nucleotide variant	NM_016138.5(COQ7):c.378C>T (p.Thr126=)	not provided [RCV002765996]	likely benign	16	19075731	19075731	Human		name
156005989	CV2046110	single nucleotide variant	NM_016138.5(COQ7):c.558C>T (p.Leu186=)	not provided [RCV002794849]	likely benign	16	19077356	19077356	Human		name
156273225	CV2132902	single nucleotide variant	NM_016138.5(COQ7):c.420G>A (p.Ala140=)	not provided [RCV003009341]	likely benign\|uncertain significance	16	19075773	19075773	Human		name
156300653	CV2146111	single nucleotide variant	NM_016138.5(COQ7):c.627G>A (p.Val209=)	not provided [RCV003010368]	likely benign	16	19078131	19078131	Human		name
405071333	CV2946557	single nucleotide variant	NM_016138.5(COQ7):c.360T>C (p.Phe120=)	not provided [RCV003659386]	likely benign	16	19074028	19074028	Human		name
405230037	CV2964278	single nucleotide variant	NM_016138.5(COQ7):c.339C>T (p.Pro113=)	not provided [RCV003682097]	likely benign	16	19074007	19074007	Human		name
405217368	CV2972016	single nucleotide variant	NM_016138.5(COQ7):c.585C>T (p.Ala195=)	not provided [RCV003680052]	likely benign	16	19078089	19078089	Human		name
405229909	CV2977424	single nucleotide variant	NM_016138.5(COQ7):c.459C>T (p.Ile153=)	not provided [RCV003711336]	likely benign	16	19075812	19075812	Human		name
404989091	CV3131873	single nucleotide variant	NM_016138.5(COQ7):c.630G>A (p.Ala210=)	not provided [RCV003827001]	likely benign	16	19078134	19078134	Human		name
405246566	CV3158527	single nucleotide variant	NM_016138.5(COQ7):c.414C>G (p.Thr138=)	not provided [RCV003868869]	likely benign	16	19075767	19075767	Human		name
596920628	CV3534078	single nucleotide variant	NM_016138.5(COQ7):c.71C>G (p.Ser24Ter)	not specified [RCV004783296]	uncertain significance	16	19067735	19067735	Human		name
597774004	CV3654223	single nucleotide variant	NM_016138.5(COQ7):c.58C>T (p.Arg20Trp)	not specified [RCV004897623]	uncertain significance	16	19067722	19067722	Human		name
597904154	CV3856222	single nucleotide variant	NM_016138.5(COQ7):c.348C>T (p.Asn116=)	not provided [RCV005202450]	likely benign	16	19074016	19074016	Human		name
598234361	CV3945000	single nucleotide variant	NM_016138.5(COQ7):c.89C>A (p.Thr30Asn)	not specified [RCV005320070]	uncertain significance	16	19071943	19071943	Human		name
14714040	CV668165	duplication	NM_016138.5(COQ7):c.368-278_368-275dup	not provided [RCV000828896]	benign	16	19075442	19075443	Human		name
15164802	CV703538	single nucleotide variant	NM_016138.5(COQ7):c.492C>T (p.Tyr164=)	COQ7-related disorder [RCV003913251]\|not provided [RCV000948434]	benign\|likely benign	16	19075845	19075845	Human	1	name , trait , alternate_id
15200131	CV726476	single nucleotide variant	NM_016138.5(COQ7):c.615C>T (p.Ala205=)	not provided [RCV000890828]	likely benign	16	19078119	19078119	Human		name
15114514	CV740004	single nucleotide variant	NM_016138.5(COQ7):c.414C>T (p.Thr138=)	not provided [RCV000894868]	likely benign	16	19075767	19075767	Human		name
15165965	CV754969	single nucleotide variant	NM_016138.5(COQ7):c.387C>T (p.Leu129=)	COQ7-related disorder [RCV003913134]\|not provided [RCV000926755]	likely benign	16	19075740	19075740	Human	1	name , trait , alternate_id
151754091	CV1355768	single nucleotide variant	NM_016138.5(COQ7):c.151C>T (p.Arg51Ter)	not provided [RCV001986581]	uncertain significance	16	19072005	19072005	Human		name
151827243	CV1359949	single nucleotide variant	NM_016138.5(COQ7):c.293A>G (p.Asn98Ser)	not provided [RCV002050367]\|not specified [RCV004044888]	likely benign\|uncertain significance	16	19073961	19073961	Human		name
151873689	CV1382112	single nucleotide variant	NM_016138.5(COQ7):c.200A>C (p.Tyr67Ser)	not provided [RCV002019270]	uncertain significance	16	19072054	19072054	Human		name
151858306	CV1399843	single nucleotide variant	NM_016138.5(COQ7):c.197T>A (p.Ile66Asn)	not provided [RCV001923680]	uncertain significance	16	19072051	19072051	Human		name
151768198	CV1408108	single nucleotide variant	NM_016138.5(COQ7):c.187G>C (p.Ala63Pro)	not provided [RCV001914722]	uncertain significance	16	19072041	19072041	Human		name
151731990	CV1419366	single nucleotide variant	NM_016138.5(COQ7):c.163G>C (p.Val55Leu)	not provided [RCV001946146]\|not specified [RCV004042104]	uncertain significance	16	19072017	19072017	Human		name
151880159	CV1421239	single nucleotide variant	NM_016138.5(COQ7):c.238G>A (p.Gly80Arg)	not provided [RCV001886357]	uncertain significance	16	19072092	19072092	Human		name
151833644	CV1446662	single nucleotide variant	NM_016138.5(COQ7):c.178G>A (p.Glu60Lys)	not provided [RCV002031048]	uncertain significance	16	19072032	19072032	Human		name
151777374	CV1452826	single nucleotide variant	NM_016138.5(COQ7):c.104G>A (p.Arg35His)	not provided [RCV001875038]\|not specified [RCV004040580]	uncertain significance	16	19071958	19071958	Human		name
151736413	CV1465999	single nucleotide variant	NM_016138.5(COQ7):c.107G>T (p.Ser36Ile)	not provided [RCV002041763]	uncertain significance	16	19071961	19071961	Human		name
151853751	CV1487048	single nucleotide variant	NM_016138.5(COQ7):c.238G>T (p.Gly80Trp)	not provided [RCV001937690]	uncertain significance	16	19072092	19072092	Human		name
151831758	CV1487799	single nucleotide variant	NM_016138.5(COQ7):c.107G>C (p.Ser36Thr)	not provided [RCV001955744]	uncertain significance	16	19071961	19071961	Human		name
151787329	CV1504673	single nucleotide variant	NM_016138.5(COQ7):c.193C>T (p.Arg65Cys)	not provided [RCV001951688]	likely benign\|conflicting interpretations of pathogenicity	16	19072047	19072047	Human		name
155746334	CV1771634	single nucleotide variant	NM_016138.5(COQ7):c.223G>T (p.Gly75Cys)	not provided [RCV002303415]	uncertain significance	16	19072077	19072077	Human		name
156444310	CV1938164	single nucleotide variant	NM_016138.5(COQ7):c.226C>T (p.Arg76Trp)	not provided [RCV003115233]	uncertain significance	16	19072080	19072080	Human		name
156353672	CV1962207	single nucleotide variant	NM_016138.5(COQ7):c.200A>G (p.Tyr67Cys)	not provided [RCV002581238]	uncertain significance	16	19072054	19072054	Human		name
156274859	CV1971101	single nucleotide variant	NM_016138.5(COQ7):c.292A>G (p.Asn98Asp)	not provided [RCV002598210]	uncertain significance	16	19073960	19073960	Human		name
156217408	CV1995511	single nucleotide variant	NM_016138.5(COQ7):c.291C>G (p.Phe97Leu)	COQ7-related disorder [RCV003961106]\|not provided [RCV002667089]\|not specified [RCV004066797]	uncertain significance	16	19073959	19073959	Human	1	name , trait , alternate_id
156371786	CV2007828	single nucleotide variant	NM_016138.5(COQ7):c.203C>G (p.Ala68Gly)	not provided [RCV002676959]	uncertain significance	16	19072057	19072057	Human		name
156148324	CV2022941	single nucleotide variant	NM_016138.5(COQ7):c.118A>G (p.Thr40Ala)	not provided [RCV002741142]	uncertain significance	16	19071972	19071972	Human		name
155902408	CV2043687	single nucleotide variant	NM_016138.5(COQ7):c.227G>A (p.Arg76Gln)	not provided [RCV002771059]\|not specified [RCV005321246]	uncertain significance	16	19072081	19072081	Human		name
156352792	CV2118776	single nucleotide variant	NM_016138.5(COQ7):c.137G>A (p.Arg46Gln)	not provided [RCV002966424]\|not specified [RCV004068131]	uncertain significance	16	19071991	19071991	Human		name
156161710	CV2135383	single nucleotide variant	NM_016138.5(COQ7):c.293A>C (p.Asn98Thr)	not provided [RCV002983030]	uncertain significance	16	19073961	19073961	Human		name
156102794	CV2149203	single nucleotide variant	NM_016138.5(COQ7):c.182A>G (p.Tyr61Cys)	not provided [RCV003021109]	uncertain significance	16	19072036	19072036	Human		name
401830063	CV2747657	single nucleotide variant	NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003336854]\|Primary coenzyme Q10 deficiency 8 [RCV003329216]	pathogenic\|uncertain significance	16	19072014	19072014	Human	2	name
401854969	CV2752697	single nucleotide variant	NM_016138.5(COQ7):c.218T>A (p.Val73Asp)	Primary coenzyme Q10 deficiency 8 [RCV003337751]	uncertain significance	16	19072072	19072072	Human	1	name
401934392	CV2807688	deletion	NM_016138.5(COQ7):c.15_25del (p.Ala6fs)	not provided [RCV003411283]	uncertain significance	16	19067676	19067686	Human		name
404994939	CV2996128	single nucleotide variant	NM_016138.5(COQ7):c.128A>G (p.Asn43Ser)	not provided [RCV003692620]	uncertain significance	16	19071982	19071982	Human		name
405239892	CV3165964	single nucleotide variant	NM_016138.5(COQ7):c.271A>G (p.Lys91Glu)	not provided [RCV003866976]	uncertain significance	16	19073939	19073939	Human		name
598126243	CV3886157	deletion	NM_016138.5(COQ7):c.478del (p.Asp160fs)	not provided [RCV005241960]	likely pathogenic	16	19075830	19075830	Human		name
598234369	CV3945001	single nucleotide variant	NM_016138.5(COQ7):c.251A>G (p.Gln84Arg)	not specified [RCV005320071]	uncertain significance	16	19072105	19072105	Human		name
13462420	CV438622	single nucleotide variant	NM_016138.5(COQ7):c.136C>T (p.Arg46Trp)	not provided [RCV000514121]	benign\|likely benign	16	19071990	19071990	Human		name
13827512	CV578526	single nucleotide variant	NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003492154]\|Primary coenzyme Q10 deficiency 8 [RCV000714574]\|not provided [RCV003420273]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	19072015	19072015	Human	2	name
15167510	CV714783	single nucleotide variant	NM_016138.5(COQ7):c.124G>C (p.Asp42His)	COQ7-related disorder [RCV003962879]\|not provided [RCV000971414]	benign	16	19071978	19071978	Human	1	name , trait , alternate_id
15172988	CV714785	single nucleotide variant	NM_016138.5(COQ7):c.235G>A (p.Val79Ile)	not provided [RCV000972525]	likely benign\|conflicting interpretations of pathogenicity	16	19072089	19072089	Human		name
150497646	CV1271376	microsatellite	NM_016138.5(COQ7):c.15GGC[5] (p.Ala9dup)	not provided [RCV001689066]	benign	16	19067678	19067679	Human		name
151824317	CV1350868	single nucleotide variant	NM_016138.5(COQ7):c.419C>T (p.Ala140Val)	not provided [RCV001919877]	uncertain significance	16	19075772	19075772	Human		name
151839973	CV1368984	single nucleotide variant	NM_016138.5(COQ7):c.604A>G (p.Ile202Val)	not provided [RCV002015212]	uncertain significance	16	19078108	19078108	Human		name
151891999	CV1403438	single nucleotide variant	NM_016138.5(COQ7):c.524G>A (p.Arg175Gln)	not provided [RCV001943652]	uncertain significance	16	19077322	19077322	Human		name
151858774	CV1403567	single nucleotide variant	NM_016138.5(COQ7):c.377C>T (p.Thr126Ile)	not provided [RCV001996860]\|not specified [RCV004043835]	uncertain significance	16	19075730	19075730	Human		name
151766623	CV1410244	single nucleotide variant	NM_016138.5(COQ7):c.634T>C (p.Tyr212His)	not provided [RCV001987840]	uncertain significance	16	19078138	19078138	Human		name
151892898	CV1411599	single nucleotide variant	NM_016138.5(COQ7):c.505C>G (p.Gln169Glu)	not provided [RCV001944589]	uncertain significance	16	19075858	19075858	Human		name
151844397	CV1414780	single nucleotide variant	NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003493887]\|Primary coenzyme Q10 deficiency 8 [RCV002508971]\|not provided [RCV001903238]	pathogenic\|uncertain significance\|not provided	16	19075799	19075799	Human	2	name
151729160	CV1416441	single nucleotide variant	NM_016138.5(COQ7):c.348C>A (p.Asn116Lys)	not provided [RCV002004591]\|not specified [RCV004043915]	uncertain significance	16	19074016	19074016	Human		name
151821194	CV1425630	single nucleotide variant	NM_016138.5(COQ7):c.633A>G (p.Ile211Met)	not provided [RCV001954777]	uncertain significance	16	19078137	19078137	Human		name
151853724	CV1455472	single nucleotide variant	NM_016138.5(COQ7):c.371C>G (p.Ala124Gly)	not provided [RCV002016923]	uncertain significance	16	19075724	19075724	Human		name
151813544	CV1460275	single nucleotide variant	NM_016138.5(COQ7):c.341T>C (p.Leu114Ser)	not provided [RCV001878509]\|not specified [RCV004039637]	uncertain significance	16	19074009	19074009	Human		name
151791461	CV1489979	single nucleotide variant	NM_016138.5(COQ7):c.516G>T (p.Lys172Asn)	not provided [RCV001952089]	uncertain significance	16	19077314	19077314	Human		name
151763120	CV1499278	single nucleotide variant	NM_016138.5(COQ7):c.484G>A (p.Glu162Lys)	not provided [RCV001863328]	uncertain significance	16	19075837	19075837	Human		name
155701463	CV1771163	single nucleotide variant	NM_016138.5(COQ7):c.434T>C (p.Ile145Thr)	not provided [RCV002295648]	uncertain significance	16	19075787	19075787	Human		name
156410101	CV1888170	single nucleotide variant	NM_016138.5(COQ7):c.592G>A (p.Val198Ile)	not provided [RCV003071936]\|not specified [RCV004071669]	uncertain significance	16	19078096	19078096	Human		name
156418249	CV1914623	single nucleotide variant	NM_016138.5(COQ7):c.563A>G (p.His188Arg)	not provided [RCV002611428]	uncertain significance	16	19077361	19077361	Human		name
156404896	CV1919088	single nucleotide variant	NM_016138.5(COQ7):c.464C>T (p.Thr155Met)	not provided [RCV002585524]\|not specified [RCV005323355]	uncertain significance	16	19075817	19075817	Human		name
156438847	CV1943401	single nucleotide variant	NM_016138.5(COQ7):c.388G>A (p.Gly130Arg)	not provided [RCV003108795]	uncertain significance	16	19075741	19075741	Human		name
155912410	CV1980277	single nucleotide variant	NM_016138.5(COQ7):c.320G>A (p.Arg107Gln)	not provided [RCV002614088]	uncertain significance	16	19073988	19073988	Human		name
156212717	CV1983502	single nucleotide variant	NM_016138.5(COQ7):c.436G>A (p.Ala146Thr)	not provided [RCV002626138]	uncertain significance	16	19075789	19075789	Human		name
156050011	CV2006683	single nucleotide variant	NM_016138.5(COQ7):c.507G>C (p.Gln169His)	not provided [RCV002659334]\|not specified [RCV003388125]	uncertain significance	16	19075860	19075860	Human		name
156180679	CV2020474	single nucleotide variant	NM_016138.5(COQ7):c.466C>G (p.Leu156Val)	not provided [RCV002710774]	uncertain significance	16	19075819	19075819	Human		name
156031782	CV2029805	single nucleotide variant	NM_016138.5(COQ7):c.574T>G (p.Leu192Val)	not provided [RCV002735836]	uncertain significance	16	19077372	19077372	Human		name
155994730	CV2060055	single nucleotide variant	NM_016138.5(COQ7):c.322C>A (p.Pro108Thr)	not provided [RCV002819368]	uncertain significance	16	19073990	19073990	Human		name
156311112	CV2063415	single nucleotide variant	NM_016138.5(COQ7):c.609C>G (p.Ile203Met)	not provided [RCV002834126]	uncertain significance	16	19078113	19078113	Human		name
156192809	CV2066453	microsatellite	NM_016138.5(COQ7):c.15GGC[3] (p.Ala9del)	not provided [RCV002828664]	uncertain significance	16	19067679	19067681	Human		name
156388420	CV2122212	single nucleotide variant	NM_016138.5(COQ7):c.401C>T (p.Ala134Val)	not provided [RCV002943670]	uncertain significance	16	19075754	19075754	Human		name
156209207	CV2131495	single nucleotide variant	NM_016138.5(COQ7):c.616G>A (p.Gly206Arg)	not provided [RCV002985523]\|not specified [RCV004065154]	uncertain significance	16	19078120	19078120	Human		name
156114741	CV2150449	single nucleotide variant	NM_016138.5(COQ7):c.379G>C (p.Ala127Pro)	not provided [RCV003021558]	uncertain significance	16	19075732	19075732	Human		name
10766757	CV216921	single nucleotide variant	NM_016138.5(COQ7):c.422T>A (p.Val141Glu)	Primary coenzyme Q10 deficiency 8 [RCV000203513]	pathogenic	16	19075775	19075775	Human	1	name
401735324	CV2672376	single nucleotide variant	NM_016138.5(COQ7):c.332T>C (p.Leu111Pro)	Primary coenzyme Q10 deficiency 8 [RCV003239277]	pathogenic	16	19074000	19074000	Human	1	name
401873117	CV2752025	duplication	NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)	Primary coenzyme Q10 deficiency 8 [RCV003335902]	likely pathogenic	16	19067684	19067685	Human	1	name
401857743	CV2752204	single nucleotide variant	NM_016138.5(COQ7):c.467T>A (p.Leu156Gln)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003336610]	pathogenic	16	19075820	19075820	Human	1	name
401857741	CV2752206	single nucleotide variant	NM_016138.5(COQ7):c.467T>G (p.Leu156Arg)	Neuronopathy, distal hereditary motor, autosomal recessive 9 [RCV003336611]	pathogenic	16	19075820	19075820	Human	1	name
401881269	CV2789553	single nucleotide variant	NM_016138.5(COQ7):c.567T>G (p.Asp189Glu)	not specified [RCV004360159]	uncertain significance	16	19077365	19077365	Human		name
405280636	CV3222574	single nucleotide variant	NM_016138.5(COQ7):c.334A>G (p.Met112Val)	Primary coenzyme Q10 deficiency 8 [RCV003986081]	pathogenic	16	19074002	19074002	Human	1	name
405684941	CV3235618	single nucleotide variant	NM_016138.5(COQ7):c.607A>T (p.Ile203Phe)	not provided [RCV004787095]\|not specified [RCV004372132]	uncertain significance	16	19078111	19078111	Human		name
597649321	CV3654224	single nucleotide variant	NM_016138.5(COQ7):c.566A>G (p.Asp189Gly)	not specified [RCV004910334]	uncertain significance	16	19077364	19077364	Human		name
597649333	CV3654225	single nucleotide variant	NM_016138.5(COQ7):c.443A>G (p.His148Arg)	not specified [RCV004910335]	uncertain significance	16	19075796	19075796	Human		name
597718679	CV3733440	single nucleotide variant	NM_016138.5(COQ7):c.629C>T (p.Ala210Val)	not provided [RCV005052630]	uncertain significance	16	19078133	19078133	Human		name
597897809	CV3744579	single nucleotide variant	NM_016138.5(COQ7):c.524G>T (p.Arg175Leu)	not provided [RCV005071857]	uncertain significance	16	19077322	19077322	Human		name
14735682	CV656341	single nucleotide variant	NM_016138.5(COQ7):c.308C>T (p.Thr103Met)	Primary coenzyme Q10 deficiency 8 [RCV001664473]\|not provided [RCV000838125]	benign	16	19073976	19073976	Human	2	name
14735682	CV656341	single nucleotide variant	NM_016138.5(COQ7):c.308C>T (p.Thr103Met)	Primary coenzyme Q10 deficiency 8 [RCV001664473]\|not provided [RCV000838125]	benign	16	19073976	19073977	Human	2	name
15160552	CV726475	single nucleotide variant	NM_016138.5(COQ7):c.545A>G (p.His182Arg)	COQ7-related disorder [RCV003920536]\|not provided [RCV000881404]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	19077343	19077343	Human	1	name , trait , alternate_id
39456303	CV917791	single nucleotide variant	NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)	Primary coenzyme Q10 deficiency 8 [RCV001257089]\|not provided [RCV003117836]	conflicting interpretations of pathogenicity\|uncertain significance	16	19073987	19073987	Human	1	name
155979720	CV2157190	deletion	NM_016138.5(COQ7):c.121_122del (p.Leu41fs)	not provided [RCV003016318]	uncertain significance	16	19071974	19071975	Human		name
151885369	CV1506964	deletion	NM_016138.5(COQ7):c.414_439del (p.Val139fs)	not provided [RCV001962528]	uncertain significance	16	19075763	19075788	Human		name
152982817	CV1677681	microsatellite	NM_016138.5(COQ7):c.635_636del (p.Tyr212fs)	Primary coenzyme Q10 deficiency 8 [RCV002249833]	pathogenic\|likely pathogenic	16	19078135	19078136	Human		name
616935171	CV4009356	deletion	NM_016138.5(COQ7):c.516_519del (p.Lys172fs)	not provided [RCV005402528]	uncertain significance	16	19077311	19077314	Human		name
13462605	CV438654	duplication	NM_016138.5(COQ7):c.614_617dup (p.Cys207fs)	not provided [RCV000514459]	uncertain significance	16	19078115	19078116	Human		name
597919945	CV3811722	inversion	NM_016138.5(COQ7):c.307_308inv (p.Thr103Val)	not provided [RCV005155553]	uncertain significance	16	19073975	19073976	Human		name
151878385	CV1395347	indel	NM_016138.5(COQ7):c.17_18delinsAA (p.Ala6Glu)	not provided [RCV001999218]	uncertain significance	16	19067681	19067682	Human		name
597887495	CV3787603	indel	NM_016138.5(COQ7):c.65_66delinsTA (p.Ser22Leu)	not provided [RCV005125169]	uncertain significance	16	19067729	19067730	Human		name
597887488	CV3787602	deletion	NM_016138.5(COQ7):c.38_64del (p.Trp13_Arg21del)	not provided [RCV005125168]	uncertain significance	16	19067701	19067727	Human		name
405280637	CV3222575	indel	NM_016138.5(COQ7):c.613_617delinsCAT (p.Ala205fs)	Primary coenzyme Q10 deficiency 8 [RCV003986082]	pathogenic	16	19078117	19078121	Human		name
39456302	CV917792	indel	NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs)	Primary coenzyme Q10 deficiency 8 [RCV001257088]	likely pathogenic	16	19078103	19078104	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message