"Athena Diagnostics"[submitter] AND "COQ8A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214037	NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys)	COQ8A (I4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585375	NM_020247.5(COQ8A):c.13T>C (p.Leu5=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446801	NM_020247.5(COQ8A):c.50A>G (p.Lys17Arg)	COQ8A (K17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214025	NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)	COQ8A (A21V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136294	NM_020247.5(COQ8A):c.63G>A (p.Ala21=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136295	NM_020247.5(COQ8A):c.67G>A (p.Val23Met)	COQ8A (V23M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136296	NM_020247.5(COQ8A):c.78C>T (p.His26=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 128273	NM_020247.5(COQ8A):c.117G>A (p.Ala39=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1401003	NM_020247.5(COQ8A):c.137C>T (p.Thr46Met)	COQ8A (T46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446788	NM_020247.5(COQ8A):c.148del (p.Gln50fs)	COQ8A (Q50fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1256284	NM_020247.5(COQ8A):c.150G>T (p.Gln50His)	COQ8A (Q50H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214026	NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)	COQ8A (H80Y)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +3 more	GBenign/Likely benign
Select item 446798	NM_020247.5(COQ8A):c.240C>T (p.His80=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 136298	NM_020247.5(COQ8A):c.258A>C (p.Ala86=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136299	NM_020247.5(COQ8A):c.291C>T (p.Ser97=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 214027	NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)	COQ8A (D100Y)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 804510	NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)	COQ8A (P105Q)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 585378	NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn)	COQ8A (S112N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446799	NM_020247.5(COQ8A):c.337G>A (p.Glu113Lys)	COQ8A (E113K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1807078	NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)	COQ8A (G114D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046720	NM_020247.5(COQ8A):c.344C>G (p.Pro115Arg)	COQ8A (P115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 296009	NM_020247.5(COQ8A):c.358G>A (p.Val120Met)	COQ8A (V120M)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 377442	NM_020247.5(COQ8A):c.384C>T (p.Ala128=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 214028	NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg)	COQ8A (G129R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 446800	NM_020247.5(COQ8A):c.401C>T (p.Ala134Val)	COQ8A (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 296010	NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)	COQ8A (G143R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 875574	NM_020247.5(COQ8A):c.525C>T (p.Ala175=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +2 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 446802	NM_020247.5(COQ8A):c.588+3_588+6del	COQ8A	Deletion (splice donor variant)	not specified	GUncertain significance
Select item 1807079	NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)	COQ8A (E199K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214031	NM_020247.5(COQ8A):c.618G>A (p.Val206=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 281924	NM_020247.5(COQ8A):c.638_645del (p.Arg213fs)	COQ8A (R213fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GPathogenic/Likely pathogenic
Select item 214032	NM_020247.5(COQ8A):c.655+9G>A	COQ8A	Single nucleotide variant (intron variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign
Select item 214033	NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)	COQ8A (A233T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1807076	NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)	COQ8A (R238C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439390	NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)	COQ8A (G244R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 446803	NM_020247.5(COQ8A):c.730+7C>T	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1256287	NM_020247.5(COQ8A):c.741C>T (p.Ala247=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 995260	NM_020247.5(COQ8A):c.771G>A (p.Glu257=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 446804	NM_020247.5(COQ8A):c.784C>T (p.Arg262Trp)	COQ8A (R262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804511	NM_020247.5(COQ8A):c.794G>A (p.Arg265His)	COQ8A (R265H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 296015	NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	COQ8A (R271C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1405366	NM_020247.5(COQ8A):c.853+10C>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 214042	NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys)	COQ8A (E298K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 372655	NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)	COQ8A (R299W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995261	NM_020247.5(COQ8A):c.909C>T (p.Ser303=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 381728	NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)	COQ8A (A304V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 770335	NM_020247.5(COQ8A):c.912G>A (p.Ala304=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256288	NM_020247.5(COQ8A):c.921G>A (p.Met307Ile)	COQ8A (M307I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804512	NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del)	COQ8A (N318del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 136301	NM_020247.5(COQ8A):c.948C>T (p.Leu316=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 446805	NM_020247.5(COQ8A):c.973C>T (p.Arg325Trp)	COQ8A (R325W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 235765	NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)	COQ8A (Y330C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 446785	NM_020247.5(COQ8A):c.1011C>T (p.Ala337=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 585372	NM_020247.5(COQ8A):c.1014C>T (p.Ala338=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446786	NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg)	COQ8A (K350R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136302	NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +3 more	GBenign/Likely benign
Select item 446787	NM_020247.5(COQ8A):c.1057C>T (p.Arg353Cys)	COQ8A (R353C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731772	NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 585373	NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg)	COQ8A (Q366R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256282	NM_020247.5(COQ8A):c.1132G>A (p.Val378Met)	COQ8A (V378M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804504	NM_020247.5(COQ8A):c.1163-2A>G	COQ8A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 804505	NM_020247.5(COQ8A):c.1174G>A (p.Glu392Lys)	COQ8A (E392K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136303	NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign/Likely benign
Select item 296018	NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 861520	NM_020247.5(COQ8A):c.1189G>A (p.Val397Met)	COQ8A (V397M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391485	NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp)	COQ8A (R400W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 585374	NM_020247.5(COQ8A):c.1221C>G (p.Asp407Glu)	COQ8A (D407E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434089	NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)	COQ8A (R410Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1367563	NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys)	COQ8A (R416C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804506	NM_020247.5(COQ8A):c.1247G>A (p.Arg416His)	COQ8A (R416H)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 1807080	NM_020247.5(COQ8A):c.1257-6A>C	COQ8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 296020	NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)	COQ8A (D420N)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GConflicting classifications of pathogenicity
Select item 214044	NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)	COQ8A (Y429C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1256283	NM_020247.5(COQ8A):c.1332C>T (p.Thr444=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1807082	NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)	COQ8A (R464W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763998	NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1807084	NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)	COQ8A (F484L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804507	NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser)	COQ8A (T519S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446789	NM_020247.5(COQ8A):c.1605G>C (p.Glu535Asp)	COQ8A (E535D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256285	NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp)	COQ8A (R538W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 446790	NM_020247.5(COQ8A):c.1643C>T (p.Thr548Ile)	COQ8A (T548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 296023	NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3646	NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)	COQ8A (G549S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256286	NM_020247.5(COQ8A):c.1660-1G>A	COQ8A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 225030	NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)	COQ8A (M555I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely 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 585376	NM_020247.5(COQ8A):c.1676A>C (p.His559Pro)	COQ8A (H559P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446791	NM_020247.5(COQ8A):c.1698G>A (p.Leu566=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585377	NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)	COQ8A (A569D)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 296026	NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)	COQ8A (A571T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 804508	NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe)	COQ8A (S572F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3644	NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	COQ8A (T584del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 446792	NM_020247.5(COQ8A):c.1773T>C (p.Ile591=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446793	NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign/Likely benign
Select item 446794	NM_020247.5(COQ8A):c.1800C>G (p.Val600=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 872624	NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)	COQ8A (P602L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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