COQ7[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683574	NM_016138.5(COQ7):c.74-215G>A	COQ7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316640	NM_016138.5(COQ7):c.74-30C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683575	NM_016138.5(COQ7):c.74-29A>G	COQ7	Single nucleotide variant (intron variant)	Primary coenzyme Q10 deficiency 8 +1 more	GBenign
Select item 2861403	NM_016138.5(COQ7):c.74-14C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067651	NM_016138.5(COQ7):c.90C>G (p.Thr30=)	COQ7	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1373108	NM_016138.5(COQ7):c.104G>A (p.Arg35His)	COQ7 (R35H +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1443799	NM_016138.5(COQ7):c.107G>C (p.Ser36Thr)	COQ7 (S22T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1347569	NM_016138.5(COQ7):c.107G>T (p.Ser36Ile)	COQ7 (S22I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1974005	NM_016138.5(COQ7):c.118A>G (p.Thr40Ala)	COQ7 (T2A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096701	NM_016138.5(COQ7):c.121_122del (p.Leu41fs)	COQ7 (L27fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 788901	NM_016138.5(COQ7):c.124G>C (p.Asp42His)	COQ7 (D42H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2837571	NM_016138.5(COQ7):c.128A>G (p.Asn43Ser)	COQ7 (N29S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445350	NM_016138.5(COQ7):c.136C>T (p.Arg46Trp)	COQ7 (R46W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2067383	NM_016138.5(COQ7):c.137G>A (p.Arg46Gln)	COQ7 (R32Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2855695	NM_016138.5(COQ7):c.138G>A (p.Arg46=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1493570	NM_016138.5(COQ7):c.151C>T (p.Arg51Ter)	COQ7 (R37* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2580230	NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)	COQ7 (R16W +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 587428	NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	COQ7 (R54Q +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8 +1 more	GConflicting classifications of pathogenicity
Select item 1433693	NM_016138.5(COQ7):c.163G>C (p.Val55Leu)	COQ7 (V17L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1629482	NM_016138.5(COQ7):c.171T>C (p.His57=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906504	NM_016138.5(COQ7):c.177C>T (p.Gly59=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521009	NM_016138.5(COQ7):c.178G>A (p.Glu60Lys)	COQ7 (E46K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093989	NM_016138.5(COQ7):c.182A>G (p.Tyr61Cys)	COQ7 (Y23C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798583	NM_016138.5(COQ7):c.183T>C (p.Tyr61=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1378917	NM_016138.5(COQ7):c.187G>C (p.Ala63Pro)	COQ7 (A25P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014336	NM_016138.5(COQ7):c.192C>T (p.Asn64=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1460625	NM_016138.5(COQ7):c.193C>T (p.Arg65Cys)	COQ7 (R51C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1421116	NM_016138.5(COQ7):c.197T>A (p.Ile66Asn)	COQ7 (I52N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908021	NM_016138.5(COQ7):c.200A>G (p.Tyr67Cys)	COQ7 (Y53C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496710	NM_016138.5(COQ7):c.200A>C (p.Tyr67Ser)	COQ7 (Y67S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1952416	NM_016138.5(COQ7):c.203C>G (p.Ala68Gly)	COQ7 (A68G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953790	NM_016138.5(COQ7):c.204C>T (p.Ala68=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2585135	NM_016138.5(COQ7):c.218T>A (p.Val73Asp)	COQ7 (V59D +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 2897178	NM_016138.5(COQ7):c.219C>G (p.Val73=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024330	NM_016138.5(COQ7):c.219C>A (p.Val73=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1716337	NM_016138.5(COQ7):c.223G>T (p.Gly75Cys)	COQ7 (G37C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419348	NM_016138.5(COQ7):c.226C>T (p.Arg76Trp)	COQ7 (R38W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987145	NM_016138.5(COQ7):c.227G>A (p.Arg76Gln)	COQ7 (R76Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785525	NM_016138.5(COQ7):c.234C>T (p.Ser78=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 789830	NM_016138.5(COQ7):c.235G>A (p.Val79Ile)	COQ7 (V79I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1406990	NM_016138.5(COQ7):c.238G>T (p.Gly80Trp)	COQ7 (G42W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1380417	NM_016138.5(COQ7):c.238G>A (p.Gly80Arg)	COQ7 (G80R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962488	NM_016138.5(COQ7):c.245del (p.Val82fs)	COQ7 (V68fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3356962	NM_016138.5(COQ7):c.252+1G>T	COQ7	Single nucleotide variant (splice donor variant)	COQ7-related disorder	GUncertain significance
Select item 3344892	NM_016138.5(COQ7):c.252+5G>A	COQ7	Single nucleotide variant (intron variant)	COQ7-related disorder	GUncertain significance
Select item 2174563	NM_016138.5(COQ7):c.252+10T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638540	NM_016138.5(COQ7):c.252+17C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923843	NM_016138.5(COQ7):c.252+18T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683576	NM_016138.5(COQ7):c.252+121C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674115	NM_016138.5(COQ7):c.252+147G>A	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257420	NM_016138.5(COQ7):c.252+186A>G	COQ7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316720	NM_016138.5(COQ7):c.252+298A>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316735	NM_016138.5(COQ7):c.253-191G>A	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630765	NM_016138.5(COQ7):c.253-19A>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2584640	NM_016138.5(COQ7):c.253-2A>T	COQ7	Single nucleotide variant (splice acceptor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 9	GPathogenic
Select item 3008313	NM_016138.5(COQ7):c.271A>G (p.Lys91Glu)	COQ7 (K53E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945255	NM_016138.5(COQ7):c.291C>G (p.Phe97Leu)	COQ7 (F59L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1917364	NM_016138.5(COQ7):c.292A>G (p.Asn98Asp)	COQ7 (N98D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080150	NM_016138.5(COQ7):c.293A>C (p.Asn98Thr)	COQ7 (N60T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1525491	NM_016138.5(COQ7):c.293A>G (p.Asn98Ser)	COQ7 (N60S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 678528	NM_016138.5(COQ7):c.308C>T (p.Thr103Met)	COQ7 (T89M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 929475	NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)	COQ7 (R107W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1924831	NM_016138.5(COQ7):c.320G>A (p.Arg107Gln)	COQ7 (R107Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1995683	NM_016138.5(COQ7):c.322C>A (p.Pro108Thr)	COQ7 (P94T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507386	NM_016138.5(COQ7):c.332T>C (p.Leu111Pro)	COQ7 (L73P +1 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GPathogenic
Select item 3062349	NM_016138.5(COQ7):c.334A>G (p.Met112Val)	COQ7 (M112V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GPathogenic
Select item 2807043	NM_016138.5(COQ7):c.339C>T (p.Pro113=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1357976	NM_016138.5(COQ7):c.341T>C (p.Leu114Ser)	COQ7 (L100S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1449385	NM_016138.5(COQ7):c.348C>A (p.Asn116Lys)	COQ7 (N78K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2778063	NM_016138.5(COQ7):c.360T>C (p.Phe120=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1665336	NM_016138.5(COQ7):c.364C>T (p.Leu122=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 673665	NM_016138.5(COQ7):c.367+4C>T	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1878532	NM_016138.5(COQ7):c.367+5G>A	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 1932314	NM_016138.5(COQ7):c.367+7G>A	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1639880	NM_016138.5(COQ7):c.367+7G>T	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1908136	NM_016138.5(COQ7):c.367+13C>T	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1924006	NM_016138.5(COQ7):c.367+14T>C	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1633239	NM_016138.5(COQ7):c.367+19G>C	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1318399	NM_016138.5(COQ7):c.367+208dup	COQ7	Duplication (intron variant)	not provided	GLikely benign
Select item 1317589	NM_016138.5(COQ7):c.367+216C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669795	NM_016138.5(COQ7):c.368-278_368-275dup	COQ7	Duplication (intron variant)	not provided	GBenign
Select item 1635396	NM_016138.5(COQ7):c.368-7A>C	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1511837	NM_016138.5(COQ7):c.371C>G (p.Ala124Gly)	COQ7 (A110G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2164621	NM_016138.5(COQ7):c.372G>A (p.Ala124=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1447680	NM_016138.5(COQ7):c.377C>T (p.Thr126Ile)	COQ7 (T112I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1978936	NM_016138.5(COQ7):c.378C>T (p.Thr126=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099128	NM_016138.5(COQ7):c.379G>C (p.Ala127Pro)	COQ7 (A127P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 749832	NM_016138.5(COQ7):c.387C>T (p.Leu129=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2414960	NM_016138.5(COQ7):c.388G>A (p.Gly130Arg)	COQ7 (G116R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066950	NM_016138.5(COQ7):c.401C>T (p.Ala134Val)	COQ7 (A96V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1434759	NM_016138.5(COQ7):c.414_439del (p.Val139fs)	COQ7 (V101fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3007230	NM_016138.5(COQ7):c.414C>G (p.Thr138=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721367	NM_016138.5(COQ7):c.414C>T (p.Thr138=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1396089	NM_016138.5(COQ7):c.419C>T (p.Ala140Val)	COQ7 (A102V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084013	NM_016138.5(COQ7):c.420G>A (p.Ala140=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 219119	NM_016138.5(COQ7):c.422T>A (p.Val141Glu)	COQ7 (V141E +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GPathogenic
Select item 1714546	NM_016138.5(COQ7):c.434T>C (p.Ile145Thr)	COQ7 (I107T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925901	NM_016138.5(COQ7):c.436G>A (p.Ala146Thr)	COQ7 (A146T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396906	NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys)	COQ7 (Y135C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817613	NM_016138.5(COQ7):c.459C>T (p.Ile153=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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