COQ2[gene] - ClinVar - NCBI

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	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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	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 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 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 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
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 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
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 349904	NM_001358921.2(COQ2):c.*348dup	COQ2	Duplication (3 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 349906	NM_001358921.2(COQ2):c.*269G>A	COQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 349907	NM_001358921.2(COQ2):c.*257T>C	COQ2	Single nucleotide variant (3 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 349911	NM_001358921.2(COQ2):c.*53G>A	COQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3046055	NM_001358921.2(COQ2):c.*8A>G	COQ2	Single nucleotide variant (3 prime UTR variant)	COQ2-related disorder	GLikely benign
Select item 1717307	NM_001358921.2(COQ2):c.1109A>G (p.Glu370Gly)	COQ2 (E370G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214218	NM_001358921.2(COQ2):c.1100A>G (p.Asn367Ser)	COQ2 (N417S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2074714	NM_001358921.2(COQ2):c.1093A>T (p.Ile365Leu)	COQ2 (I365L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590829	NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del)	COQ2 (K407del +1 more)	Microsatellite (inframe_deletion)	Coenzyme Q10 deficiency, primary, 1 +1 more	GUncertain significance
Select item 2097934	NM_001358921.2(COQ2):c.1056G>A (p.Leu352=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 375340	NM_001358921.2(COQ2):c.1047del (p.Asn351fs)	COQ2 (N401fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 384976	NM_001358921.2(COQ2):c.1044C>T (p.Val348=)	COQ2	Single nucleotide variant (synonymous variant)	COQ2-related disorder +3 more	GLikely benign
Select item 1366493	NM_001358921.2(COQ2):c.1038G>T (p.Gly346=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943129	NM_001358921.2(COQ2):c.1034dup (p.Leu345fs)	COQ2 (L345fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2614270	NM_001358921.2(COQ2):c.1034T>C (p.Leu345Ser)	COQ2 (L345S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214217	NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala)	COQ2 (V393A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2203549	NM_001358921.2(COQ2):c.1019G>C (p.Gly340Ala)	COQ2 (G340A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472809	NM_001358921.2(COQ2):c.1012A>G (p.Thr338Ala)	COQ2 (T388A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 60539	NM_001358921.2(COQ2):c.1010G>A (p.Arg337Gln)	COQ2 (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60538	NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter)	COQ2 (R387*)	Single nucleotide variant (nonsense)	Multiple system atrophy	Grisk factor
Select item 1368793	NM_001358921.2(COQ2):c.1007A>G (p.Asn336Ser)	COQ2 (N386S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778302	NM_001358921.2(COQ2):c.1000A>T (p.Ile334Phe)	COQ2 (I334F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099025	NM_001358921.2(COQ2):c.1000A>G (p.Ile334Val)	COQ2 (I334V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203550	NM_001358921.2(COQ2):c.997T>C (p.Phe333Leu)	COQ2 (F333L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076305	NM_001358921.2(COQ2):c.981G>C (p.Glu327Asp)	COQ2 (E377D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066540	NM_001358921.2(COQ2):c.967del (p.Ile323fs)	COQ2 (I373fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1579062	NM_001358921.2(COQ2):c.966C>T (p.Asp322=)	COQ2	Single nucleotide variant (synonymous variant)	COQ2-related disorder +1 more	GLikely benign
Select item 2794294	NM_001358921.2(COQ2):c.963A>G (p.Leu321=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339524	NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln)	COQ2 (L321Q +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
Select item 2018079	NM_001358921.2(COQ2):c.960T>C (p.Thr320=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136975	NM_001358921.2(COQ2):c.957C>T (p.Tyr319=)	COQ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3046643	NM_001358921.2(COQ2):c.952-9C>G	COQ2	Single nucleotide variant (intron variant)	COQ2-related disorder	GLikely benign
Select item 2899239	NM_001358921.2(COQ2):c.952-9C>T	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely 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 3000478	NM_001358921.2(COQ2):c.951+12T>C	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712423	NM_001358921.2(COQ2):c.951+8C>G	COQ2	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 2050978	NM_001358921.2(COQ2):c.937_938delinsAG (p.His313Ser)	COQ2 (H313S +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1911221	NM_001358921.2(COQ2):c.927T>C (p.Ala309=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031929	NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)	COQ2 (A309S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2070619	NM_001358921.2(COQ2):c.919C>G (p.Leu307Val)	COQ2 (L307V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623652	NM_001358921.2(COQ2):c.918C>A (p.Ala306=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465209	NM_001358921.2(COQ2):c.917C>T (p.Ala306Val)	COQ2 (A356V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956441	NM_001358921.2(COQ2):c.913G>A (p.Ala305Thr)	COQ2 (A355T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1657577	NM_001358921.2(COQ2):c.912C>T (p.Tyr304=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely benign
Select item 1994677	NM_001358921.2(COQ2):c.906C>G (p.Pro302=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057438	NM_001358921.2(COQ2):c.894A>G (p.Gly298=)	COQ2	Single nucleotide variant (synonymous variant)	COQ2-related disorder	GLikely benign
Select item 739851	NM_001358921.2(COQ2):c.891T>C (p.Ser297=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688855	NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)	COQ2 (S297G +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 1031928	NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)	COQ2 (S297C +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1934447	NM_001358921.2(COQ2):c.887A>G (p.Asn296Ser)	COQ2 (N346S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595197	NM_001358921.2(COQ2):c.885G>A (p.Val295=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely benign
Select item 60537	NM_001358921.2(COQ2):c.878T>C (p.Val293Ala)	COQ2 (V293A)	Single nucleotide variant (missense variant)	Multiple system atrophy	Grisk factor
Select item 595080	NM_001358921.2(COQ2):c.868C>T (p.Leu290=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2190331	NM_001358921.2(COQ2):c.865G>T (p.Ala289Ser)	COQ2 (A339S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817948	NM_001358921.2(COQ2):c.855A>C (p.Ala285=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176400	NM_001358921.2(COQ2):c.849T>C (p.Ser283=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072781	NM_001358921.2(COQ2):c.848G>A (p.Ser283Asn)	COQ2 (S333N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175842	NM_001358921.2(COQ2):c.841G>A (p.Gly281Ser)	COQ2 (G281S +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 specified +2 more	GBenign
Select item 2175893	NM_001358921.2(COQ2):c.838A>C (p.Ser280Arg)	COQ2 (S280R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595749	NM_001358921.2(COQ2):c.831G>A (p.Pro277=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely benign
Select item 1386267	NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu)	COQ2 (P327L +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1983869	NM_001358921.2(COQ2):c.814G>A (p.Gly272Arg)	COQ2 (G322R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593902	NM_001358921.2(COQ2):c.813C>T (p.Phe271=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2803522	NM_001358921.2(COQ2):c.810G>C (p.Arg270=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683946	NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln)	COQ2 (R270Q +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +3 more	GUncertain significance
Select item 1474773	NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp)	COQ2 (R320W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3021852	NM_001358921.2(COQ2):c.801G>A (p.Thr267=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2084932	NM_001358921.2(COQ2):c.799A>G (p.Thr267Ala)	COQ2 (T317A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616330	NM_001358921.2(COQ2):c.798A>C (p.Ser266=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585289	NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)	COQ2 (S316* +1 more)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 1966547	NM_001358921.2(COQ2):c.789T>C (p.Gly263=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919766	NM_001358921.2(COQ2):c.784A>G (p.Ile262Val)	COQ2 (I312V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084401	NM_001358921.2(COQ2):c.772G>A (p.Asp258Asn)	COQ2 (D308N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076310	NM_001358921.2(COQ2):c.763-4T>C	COQ2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2417258	NM_001358921.2(COQ2):c.763-8G>T	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932551	NM_001358921.2(COQ2):c.763-8G>A	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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