ClinVar for Gene (Select 56997) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382514	NM_020247.5(COQ8A):c.1081-2A>G	COQ8A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 3380680	NM_020247.5(COQ8A):c.1444T>A (p.Phe482Ile)	COQ8A (F482I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380674	NM_020247.5(COQ8A):c.1128G>A (p.Met376Ile)	COQ8A (M376I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380669	NM_020247.5(COQ8A):c.1009G>A (p.Ala337Thr)	COQ8A (A337T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380659	NM_020247.5(COQ8A):c.610C>T (p.Arg204Trp)	COQ8A (R204W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377851	NM_020247.5(COQ8A):c.1632G>C (p.Met544Ile)	COQ8A (M544I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372304	NM_020247.5(COQ8A):c.1852C>T (p.Leu618Phe)	COQ8A (L618F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371331	NM_020247.5(COQ8A):c.469G>A (p.Gly157Ser)	COQ8A (G157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369689	NM_020247.5(COQ8A):c.587C>T (p.Thr196Met)	COQ8A (T196M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345675	NM_020247.5(COQ8A):c.1406A>G (p.Tyr469Cys)	COQ8A (Y469C)	Single nucleotide variant (missense variant)	COQ8A-related disorder	GUncertain significance
Select item 3345525	NM_020247.5(COQ8A):c.1627G>C (p.Glu543Gln)	COQ8A (E543Q)	Single nucleotide variant (missense variant)	COQ8A-related disorder	GUncertain significance
Select item 3344235	NM_020247.5(COQ8A):c.1941G>C (p.Gln647His)	COQ8A (Q647H)	Single nucleotide variant (missense variant)	COQ8A-related disorder	GUncertain significance
Select item 3337964	NM_020247.5(COQ8A):c.1166T>C (p.Leu389Pro)	COQ8A (L389P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256769	NM_020247.5(COQ8A):c.620C>T (p.Pro207Leu)	COQ8A (P207L)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 3254972	NM_020247.5(COQ8A):c.210del (p.Asn71fs)	COQ8A (N71fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 3248016	NC_000001.10:g.(?_227149087)_(227149283_?)del	COQ8A	Deletion	not provided	GPathogenic
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3233375	NM_020247.5(COQ8A):c.815G>C (p.Gly272Ala)	COQ8A (G272A)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 3068276	NM_020247.5(COQ8A):c.1014del (p.Ala339fs)	COQ8A (A339fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 3065953	NM_020247.5(COQ8A):c.1573-1dup	COQ8A	Duplication (splice acceptor variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 3062181	NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)	COQ8A (R527fs)	Duplication (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 3023813	NM_020247.5(COQ8A):c.1162+7G>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019501	NM_020247.5(COQ8A):c.1323T>C (p.His441=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014171	NM_020247.5(COQ8A):c.670C>G (p.Leu224Val)	COQ8A (L224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012578	NM_020247.5(COQ8A):c.1560C>T (p.Asp520=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011836	NM_020247.5(COQ8A):c.62C>A (p.Ala21Glu)	COQ8A (A21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011774	NM_020247.5(COQ8A):c.1506+15G>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999226	NM_020247.5(COQ8A):c.1464C>T (p.Asp488=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992908	NM_020247.5(COQ8A):c.656-19C>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989132	NM_020247.5(COQ8A):c.588+14G>C	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986412	NM_020247.5(COQ8A):c.1225C>T (p.Gln409Ter)	COQ8A (Q409*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2981693	NM_020247.5(COQ8A):c.519C>T (p.Leu173=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966548	NM_020247.5(COQ8A):c.1256+7C>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965369	NM_020247.5(COQ8A):c.780A>G (p.Ala260=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965156	NM_020247.5(COQ8A):c.853+24_853+46dup	COQ8A	Duplication (intron variant)	not provided	GLikely benign
Select item 2959517	NM_020247.5(COQ8A):c.853+11G>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956895	NM_020247.5(COQ8A):c.1131C>T (p.Ala377=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919013	NM_020247.5(COQ8A):c.876C>G (p.His292Gln)	COQ8A (H292Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2916997	NM_020247.5(COQ8A):c.322G>C (p.Gly108Arg)	COQ8A (G108R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2899785	NM_020247.5(COQ8A):c.1251G>A (p.Lys417=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875719	NM_020247.5(COQ8A):c.1315dup (p.Ser439fs)	COQ8A (S439fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2871487	NM_020247.5(COQ8A):c.1507-20_1507-18del	COQ8A	Deletion (intron variant)	not provided	GLikely benign
Select item 2868028	NM_020247.5(COQ8A):c.177+12T>C	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863686	NM_020247.5(COQ8A):c.864T>C (p.Phe288=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863060	NM_020247.5(COQ8A):c.1660-19C>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859569	NM_020247.5(COQ8A):c.599A>G (p.His200Arg)	COQ8A (H200R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852128	NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)	COQ8A (R598fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2848335	NM_020247.5(COQ8A):c.1048A>G (p.Lys350Glu)	COQ8A (K350E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839029	NM_020247.5(COQ8A):c.656-17C>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836529	NM_020247.5(COQ8A):c.645C>T (p.Ala215=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819681	NM_020247.5(COQ8A):c.1506+17G>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812850	NM_020247.5(COQ8A):c.1398+16C>G	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810110	NM_020247.5(COQ8A):c.901C>A (p.Arg301=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792753	NM_020247.5(COQ8A):c.1632dup (p.Lys545fs)	COQ8A (K545fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2790223	NM_020247.5(COQ8A):c.1596G>A (p.Arg532=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788976	NM_020247.5(COQ8A):c.1755G>A (p.Glu585=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787128	NM_020247.5(COQ8A):c.924A>C (p.Pro308=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777460	NM_020247.5(COQ8A):c.1351T>G (p.Phe451Val)	COQ8A (F451V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775735	NM_020247.5(COQ8A):c.1506+16G>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760714	NM_020247.5(COQ8A):c.650del (p.Phe217fs)	COQ8A (F217fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759495	NM_020247.5(COQ8A):c.1274_1282del (p.His425_Phe428delinsLeu)	COQ8A	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2758983	NM_020247.5(COQ8A):c.656-10C>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725583	NM_020247.5(COQ8A):c.394G>A (p.Gly132Ser)	COQ8A (G132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697995	NM_020247.5(COQ8A):c.1232_1233del (p.Glu411fs)	COQ8A (E411fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2693008	NM_020247.5(COQ8A):c.1117AAC[1] (p.Asn374del)	COQ8A (N374del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2690576	NM_020247.5(COQ8A):c.32del (p.Val11fs)	COQ8A (V11fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 2684206	NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)	COQ8A (D557G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684186	NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)	COQ8A (A338T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684180	NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)	COQ8A (F336L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639978	NM_020247.5(COQ8A):c.1104C>T (p.Ile368=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639977	NM_020247.5(COQ8A):c.656-991GGGTGCG[3]	COQ8A	Microsatellite (intron variant)	not provided	GBenign
Select item 2639976	NM_020247.5(COQ8A):c.656-1169A>G	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639975	NM_020247.5(COQ8A):c.656-1256_656-1241del	COQ8A	Deletion (intron variant)	not provided	GLikely benign
Select item 2631386	NM_020247.5(COQ8A):c.1085del (p.Pro362fs)	COQ8A (P362fs)	Deletion (frameshift variant)	COQ8A-related disorder	GPathogenic
Select item 2630921	NM_020247.5(COQ8A):c.655+1G>A	COQ8A	Single nucleotide variant (splice donor variant)	COQ8A-related disorder	GLikely pathogenic
Select item 2578598	NM_020247.5(COQ8A):c.947_948del (p.Leu316fs)	COQ8A (L316fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2578597	NM_020247.5(COQ8A):c.544C>T (p.Arg182Trp)	COQ8A (R182W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570754	NM_020247.5(COQ8A):c.872C>T (p.Pro291Leu)	COQ8A (P291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503439	NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)	COQ8A (N490fs)	Duplication (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 2503437	NM_020247.5(COQ8A):c.1088dup (p.Val364fs)	COQ8A (V364fs)	Duplication (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 2501498	NM_020247.5(COQ8A):c.1276C>A (p.Pro426Thr)	COQ8A (P426T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501496	NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)	COQ8A (D305N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498448	NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)	COQ8A (C268R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2445844	NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)	COQ8A (P603fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2441667	NM_020247.5(COQ8A):c.578A>G (p.His193Arg)	COQ8A (H193R)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 2439508	NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)	COQ8A (R301Q)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GLikely pathogenic
Select item 2438871	NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)	COQ8A (R202Q)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 2426534	NC_000001.10:g.(?_227149087)_(227174438_?)dup	COQ8A	Duplication	not provided	GUncertain significance
Select item 2420159	NM_020247.5(COQ8A):c.1032G>A (p.Val344=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419092	NM_020247.5(COQ8A):c.1059C>T (p.Arg353=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418388	NM_020247.5(COQ8A):c.793C>T (p.Arg265Cys)	COQ8A (R265C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418383	NM_020247.5(COQ8A):c.768C>G (p.Ser256=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417496	NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)	COQ8A (T174I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412698	NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)	COQ8A (M613fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 2400416	NM_020247.5(COQ8A):c.1591G>A (p.Asp531Asn)	COQ8A (D531N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290889	NM_020247.5(COQ8A):c.178-3C>T	COQ8A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2270768	NM_020247.5(COQ8A):c.446C>T (p.Pro149Leu)	COQ8A (P149L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268948	NM_020247.5(COQ8A):c.1493C>A (p.Pro498His)	COQ8A (P498H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267906	NM_020247.5(COQ8A):c.641T>A (p.Leu214Gln)	COQ8A (L214Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262839	NM_020247.5(COQ8A):c.692A>C (p.Glu231Ala)	COQ8A (E231A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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