"GeneDx"[submitter] AND "COQ2"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59457	GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59458	GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 349906	NM_001358921.2(COQ2):c.*269G>A	COQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 349911	NM_001358921.2(COQ2):c.*53G>A	COQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 214218	NM_001358921.2(COQ2):c.1100A>G (p.Asn367Ser)	COQ2 (N417S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384976	NM_001358921.2(COQ2):c.1044C>T (p.Val348=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely benign
Select item 214217	NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala)	COQ2 (V393A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 136975	NM_001358921.2(COQ2):c.957C>T (p.Tyr319=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 683558	NM_001358921.2(COQ2):c.951+217C>T	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683557	NM_001358921.2(COQ2):c.951+215T>G	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671316	NM_001358921.2(COQ2):c.951+153C>T	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3370074	NM_001358921.2(COQ2):c.934G>A (p.Ala312Thr)	COQ2 (A312T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128830	NM_001358921.2(COQ2):c.840C>T (p.Ser280=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1683946	NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln)	COQ2 (R270Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 214224	NM_001358921.2(COQ2):c.800C>T (p.Thr267Met)	COQ2 (T317M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1270581	NM_001358921.2(COQ2):c.763-75G>C	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280961	NM_001358921.2(COQ2):c.763-92dup	COQ2	Duplication (intron variant)	not provided	GBenign
Select item 1223554	NM_001358921.2(COQ2):c.763-92_763-91dup	COQ2	Duplication (intron variant)	not provided	GLikely benign
Select item 673118	NM_001358921.2(COQ2):c.763-307G>C	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683554	NM_001358921.2(COQ2):c.762+264T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230746	NM_001358921.2(COQ2):c.762+112A>G	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675848	NM_001358921.2(COQ2):c.762+49A>G	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225030	NM_001358921.2(COQ2):c.762+35T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136974	NM_001358921.2(COQ2):c.762+14C>A	COQ2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 128829	NM_001358921.2(COQ2):c.744T>C (p.Asp248=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GBenign
Select item 1436	NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)	COQ2 (Y297C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1373039	NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys)	COQ2 (G226C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 377741	NM_001358921.2(COQ2):c.651G>A (p.Ala217=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely benign
Select item 1281061	NM_001358921.2(COQ2):c.628+277G>C	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377740	NM_001358921.2(COQ2):c.625T>C (p.Leu209=)	COQ2	Single nucleotide variant (synonymous variant)	Multiple system atrophy 1, susceptibility to +2 more	GLikely benign
Select item 2090968	NM_001358921.2(COQ2):c.599G>T (p.Arg200Ile)	COQ2 (R250I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489363	NM_001358921.2(COQ2):c.585C>G (p.Tyr195Ter)	COQ2 (Y245* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1281345	NM_001358921.2(COQ2):c.543-41G>A	COQ2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 683553	NM_001358921.2(COQ2):c.543-247T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196121	NM_001358921.2(COQ2):c.542+335T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683548	NM_001358921.2(COQ2):c.542+320_542+321insTATG	COQ2	Insertion (intron variant)	not provided	GBenign
Select item 1200998	NM_001358921.2(COQ2):c.542+285G>A	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1439	NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	COQ2 (N228S +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 379111	NM_001358921.2(COQ2):c.453T>C (p.Ala151=)	COQ2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1438	NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	COQ2 (R197H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 136973	NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser)	COQ2 (N196S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 136972	NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala)	COQ2 (T192A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2044340	NM_001358921.2(COQ2):c.421-9T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1216526	NM_001358921.2(COQ2):c.421-135T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341588	NM_001358921.2(COQ2):c.368G>A (p.Arg123His)	COQ2 (R123H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2383288	NM_001358921.2(COQ2):c.331A>G (p.Met111Val)	COQ2 (M111V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214226	NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser)	COQ2 (F156S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 439551	NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser)	COQ2 (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 384200	NM_001358921.2(COQ2):c.254-12A>G	COQ2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 674127	NM_001358921.2(COQ2):c.254-50A>T	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220019	NM_001358921.2(COQ2):c.254-97T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249946	NM_001358921.2(COQ2):c.254-186_254-183del	COQ2	Microsatellite (intron variant)	not provided	GBenign
Select item 1251155	NM_001358921.2(COQ2):c.254-220_254-219dup	COQ2	Duplication (intron variant)	not provided	GBenign
Select item 1191471	NM_001358921.2(COQ2):c.253+203G>A	COQ2, LOC129992783	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292586	NM_001358921.2(COQ2):c.253+47T>G	COQ2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1207022	NM_001358921.2(COQ2):c.253+43del	COQ2	Deletion (intron variant)	not provided	GLikely benign
Select item 214228	NM_001358921.2(COQ2):c.227G>A (p.Arg76His)	COQ2, LOC112997540 (R126H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 218722	NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)	COQ2, LOC112997540 (D115A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136980	NM_001358921.2(COQ2):c.189G>T (p.Val63=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GBenign/Likely benign
Select item 559292	NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)	COQ2, LOC112997540 (S107T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1698040	NM_001358921.2(COQ2):c.165G>C (p.Gln55His)	COQ2, LOC112997540 (Q105H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 631951	NM_001358921.2(COQ2):c.138dup (p.Ala47fs)	COQ2, LOC112997540 (A97fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214223	NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu)	LOC112997540, COQ2 (P96L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1285203	NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)	COQ2, LOC112997540 (P46S +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +3 more	GUncertain significance
Select item 214229	NM_001358921.2(COQ2):c.132del (p.Gln44fs)	COQ2, LOC112997540 (Q44fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 488738	NM_001358921.2(COQ2):c.130C>T (p.Gln44Ter)	COQ2, LOC112997540 (Q94* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 214222	NM_001358921.2(COQ2):c.85T>C (p.Phe29Leu)	COQ2, LOC112997540 (F79L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698355	NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)	COQ2, LOC112997540 (W24* +1 more)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely pathogenic
Select item 3342845	NM_001358921.2(COQ2):c.65C>T (p.Pro22Leu)	LOC112997540, COQ2 (P22L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128828	NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)	LOC112997540, COQ2 (V66L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1049094	NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)	COQ2, LOC112997540 (A15G +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 214227	NM_001358921.2(COQ2):c.34G>C (p.Gly12Arg)	COQ2, LOC112997540 (G62R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344670	NM_001358921.2(COQ2):c.26dup (p.Ala10fs)	COQ2, LOC112997540 (A10fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1203955	NM_001358921.2(COQ2):c.1A>G (p.Met1Val)	COQ2, LOC112997540 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214220	NM_001358921.2(COQ2):c.-23C>G	COQ2, LOC112997540 (A43G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 817635	NM_001358921.2(COQ2):c.-30del	COQ2, LOC112997540 (I41fs)	Deletion (5 prime UTR variant +1 more)	COQ2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1236308	NM_015697.9(COQ2):c.85G>T (p.Gly29Cys)	COQ2, LOC112997540 (G29C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3369304	NM_015697.9(COQ2):c.76C>T (p.His26Tyr)	COQ2, LOC112997540 (H26Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136979	NM_015697.9(COQ2):c.73T>G (p.Leu25Val)	COQ2, LOC112997540 (L25V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 136978	NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)	COQ2, LOC112997540 (R22*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis +4 more	GBenign/Likely benign
Select item 136977	NM_015697.9(COQ2):c.64A>C (p.Arg22=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 235473	NM_015697.9(COQ2):c.48dup (p.Ala17fs)	COQ2, LOC112997540 (A17fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1695503	NM_015697.9(COQ2):c.34G>C (p.Gly12Arg)	COQ2, LOC112997540 (G12R)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 260677	NM_015697.9(COQ2):c.30G>A (p.Arg10=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 136976	NM_015697.9(COQ2):c.-23C>T	COQ2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 677693	NM_015697.9(COQ2):c.-90A>G	COQ2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1214188	NM_015697.9(COQ2):c.-131A>G	COQ2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3362118	NM_001358921.2(COQ2):c.560G>C (p.Gly187Ala)	COQ2 (G187A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Items: 92