Coq7 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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225 records found for search term Coq7

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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
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