ClinVar for MedGen (Select 764868) - ClinVar

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Items: 64

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25852891.	NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter) GRCh37: Chr4:84188893 GRCh38: Chr4:83267740	COQ2	S316, S266	Coenzyme Q10 deficiency, primary, 1	Uncertain significance	criteria provided, single submitter
Select item 24405152.	NM_015697.9(COQ2):c.58C>T (p.Pro20Ser) GRCh37: Chr4:84206010 GRCh38: Chr4:83284857	COQ2, LOC112997540	P20S	Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 24405143.	NM_001358921.2(COQ2):c.762+1G>A GRCh37: Chr4:84191012 GRCh38: Chr4:83269859	COQ2		Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 24405134.	NM_001358921.2(COQ2):c.254-2A>T GRCh37: Chr4:84200269 GRCh38: Chr4:83279116	COQ2		Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jan 31, 2019)	criteria provided, single submitter
Select item 24394985.	NM_001358921.2(COQ2):c.-27C>T GRCh37: Chr4:84205944 GRCh38: Chr4:83284791	COQ2, LOC112997540	R42*	Coenzyme Q10 deficiency, primary, 1	Likely pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 16983556.	NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) GRCh37: Chr4:84205847 GRCh38: Chr4:83284694	COQ2, LOC112997540	W24, W74	not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Likely pathogenic (Jan 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16980407.	NM_001358921.2(COQ2):c.165G>C (p.Gln55His) GRCh37: Chr4:84205753 GRCh38: Chr4:83284600	COQ2, LOC112997540	Q105H, Q55H	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16955038.	NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) GRCh37: Chr4:84206034 GRCh38: Chr4:83284881	LOC112997540, COQ2	G12R	not provided, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16839469.	NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) GRCh37: Chr4:84188881 GRCh38: Chr4:83267728	COQ2	R270Q, R320Q	Inborn genetic diseases, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165757710.	NM_001358921.2(COQ2):c.912C>T (p.Tyr304=) GRCh37: Chr4:84188778 GRCh38: Chr4:83267625	COQ2		Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164086511.	NM_001358921.2(COQ2):c.542+12G>A GRCh37: Chr4:84194637 GRCh38: Chr4:83273484	COQ2		Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159574912.	NM_001358921.2(COQ2):c.831G>A (p.Pro277=) GRCh37: Chr4:84188859 GRCh38: Chr4:83267706	COQ2		Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided	Likely benign (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159519713.	NM_001358921.2(COQ2):c.885G>A (p.Val295=) GRCh37: Chr4:84188805 GRCh38: Chr4:83267652	COQ2		Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151152314.	NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp) GRCh37: Chr4:84205907 GRCh38: Chr4:83284754	COQ2, LOC112997540	S4W, S54W	not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Aug 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151065015.	NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) GRCh37: Chr4:84205829 GRCh38: Chr4:83284676	COQ2, LOC112997540	A80V, A30V	not provided, Inborn genetic diseases, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148499616.	NM_001358921.2(COQ2):c.182C>T (p.Ala61Val) GRCh37: Chr4:84205736 GRCh38: Chr4:83284583	LOC112997540, COQ2	A111V, A61V	Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147477317.	NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) GRCh37: Chr4:84188882 GRCh38: Chr4:83267729	COQ2	R320W, R270W	Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, Inborn genetic diseases, not provided	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144944618.	NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) GRCh37: Chr4:84194740 GRCh38: Chr4:83273587	COQ2	A151T, A201T	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143875019.	NM_001358921.2(COQ2):c.-2C>G GRCh37: Chr4:84205919 GRCh38: Chr4:83284766	COQ2, LOC112997540	A50G	not provided, Inborn genetic diseases, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138626720.	NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) GRCh37: Chr4:84188860 GRCh38: Chr4:83267707	COQ2	P327L, P277L	not provided, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138192621.	NM_015697.9(COQ2):c.94G>A (p.Ala32Thr) GRCh37: Chr4:84205974 GRCh38: Chr4:83284821	COQ2, LOC112997540	A32T	not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137303922.	NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) GRCh37: Chr4:84191099 GRCh38: Chr4:83269946	COQ2	G226C, G276C	not provided, Inborn genetic diseases, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135843823.	NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) GRCh37: Chr4:84205985 GRCh38: Chr4:83284832	COQ2, LOC112997540	A28E	Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135752424.	NM_015697.9(COQ2):c.57G>T (p.Gln19His) GRCh37: Chr4:84206011 GRCh38: Chr4:83284858	COQ2, LOC112997540	Q19H	not provided, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134158825.	NM_001358921.2(COQ2):c.368G>A (p.Arg123His) GRCh37: Chr4:84200153 GRCh38: Chr4:83279000	COQ2	R123H, R173H	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133952426.	NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln) GRCh37: Chr4:84185506 GRCh38: Chr4:83264353	COQ2	L321Q, L371Q	Coenzyme Q10 deficiency, primary, 1	Likely pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 132415727.	NM_001358921.2(COQ2):c.762+1G>T GRCh37: Chr4:84191012 GRCh38: Chr4:83269859	COQ2		Coenzyme Q10 deficiency, primary, 1	Likely pathogenic (Dec 18, 2022)	criteria provided, single submitter
Select item 128520328.	NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) GRCh37: Chr4:84205782 GRCh38: Chr4:83284629	COQ2, LOC112997540	P46S, P96S	COQ2-related condition, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118448929.	NM_015697.9(COQ2):c.115A>T (p.Thr39Ser) GRCh37: Chr4:84205953 GRCh38: Chr4:83284800	COQ2, LOC112997540	T39S	Inborn genetic diseases, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103193130.	NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) GRCh37: Chr4:84194700 GRCh38: Chr4:83273547	COQ2	G164E, G214E	Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Sep 10, 2018)	criteria provided, single submitter
Select item 103192931.	NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) GRCh37: Chr4:84188765 GRCh38: Chr4:83267612	COQ2	A309S, A359S	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103192832.	NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) GRCh37: Chr4:84188801 GRCh38: Chr4:83267648	COQ2	S297C, S347C	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1, not provided	Uncertain significance (Dec 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102799833.	NM_015697.9(COQ2):c.97C>T (p.His33Tyr) GRCh37: Chr4:84205971 GRCh38: Chr4:83284818	COQ2, LOC112997540	H33Y	Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Feb 6, 2020)	criteria provided, single submitter
Select item 93003034.	NM_020247.5(COQ8A):c.280_284del (p.Ser95fs) GRCh37: Chr1:227152799-227152803 GRCh38: Chr1:226965098-226965102	COQ8A	S95fs	Coenzyme Q10 deficiency, primary, 1	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 83003835.	NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) GRCh37: Chr4:84194683 GRCh38: Chr4:83273530	COQ2	A220T, A170T	Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Nov 8, 2019)	no assertion criteria provided
Select item 81391136.	NM_001358921.2(COQ2):c.253+4A>T GRCh37: Chr4:84205661 GRCh38: Chr4:83284508	LOC112997540, COQ2		Coenzyme Q10 deficiency, primary, 1	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 80740137.	NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) GRCh37: Chr4:84205698 GRCh38: Chr4:83284545	COQ2, LOC112997540	Y74N, Y124N	Coenzyme Q10 deficiency, primary, 1	Likely pathogenic (Nov 23, 2018)	criteria provided, single submitter
Select item 63195138.	NM_001358921.2(COQ2):c.138dup (p.Ala47fs) GRCh37: Chr4:84205779-84205780 GRCh38: Chr4:83284626-83284627	LOC112997540, COQ2	A97fs, A47fs	not provided, Coenzyme Q10 deficiency, Multiple system atrophy, Coenzyme Q10 deficiency, primary, 1	Conflicting interpretations of pathogenicity (Jul 17, 2023)	criteria provided, conflicting interpretations
Select item 59082939.	NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) GRCh37: Chr4:84185396-84185398 GRCh38: Chr4:83264243-83264245	COQ2	K407del, K357del	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Jul 21, 2021)	criteria provided, single submitter
Select item 59082840.	NM_001195248.2(APTX):c.-5+2T>G GRCh37: Chr9:33001563 GRCh38: Chr9:33001565	APTX		Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jun 7, 2017)	no assertion criteria provided
Select item 59082641.	NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) GRCh37: Chr1:227174436 GRCh38: Chr1:226986735	COQ8A		Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jun 7, 2017)	no assertion criteria provided
Select item 59082542.	NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) GRCh37: Chr1:227174433 GRCh38: Chr1:226986732	COQ8A	Q647*	Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Jun 7, 2017)	no assertion criteria provided
Select item 59080943.	NM_020247.5(COQ8A):c.*72dup GRCh37: Chr1:227174508-227174509 GRCh38: Chr1:226986807-226986808	COQ8A		Coenzyme Q10 deficiency, primary, 1	Likely pathogenic (Jun 7, 2017)	no assertion criteria provided
Select item 55929244.	NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr) GRCh37: Chr4:84205748 GRCh38: Chr4:83284595	COQ2, LOC112997540	S107T, S57T	not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 52242345.	NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg) GRCh37: Chr4:84191071 GRCh38: Chr4:83269918	COQ2	P285R, P235R	not provided	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 43955146.	NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) GRCh37: Chr4:84200211 GRCh38: Chr4:83279058	COQ2	G154S, G104S	not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38497647.	NM_001358921.2(COQ2):c.1044C>T (p.Val348=) GRCh37: Chr4:84185424 GRCh38: Chr4:83264271	COQ2		not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37774148.	NM_001358921.2(COQ2):c.651G>A (p.Ala217=) GRCh37: Chr4:84191124 GRCh38: Chr4:83269971	COQ2		Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not provided	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37774049.	NM_001358921.2(COQ2):c.625T>C (p.Leu209=) GRCh37: Chr4:84193243 GRCh38: Chr4:83272090	COQ2		not provided, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37534050.	NM_001358921.2(COQ2):c.1047del (p.Asn351fs) GRCh37: Chr4:84185421 GRCh38: Chr4:83264268	COQ2	N401fs, N351fs	not provided	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 26067751.	NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) GRCh37: Chr4:84206038 GRCh38: Chr4:83284885	COQ2, LOC112997540		Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, not specified, not provided	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21422852.	NM_001358921.2(COQ2):c.227G>A (p.Arg76His) GRCh37: Chr4:84205691 GRCh38: Chr4:83284538	COQ2, LOC112997540	R126H, R76H	not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21422553.	NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) GRCh37: Chr4:84206052 GRCh38: Chr4:83284899	COQ2, LOC112997540	Q6K	Coenzyme Q10 deficiency, primary, 1	Uncertain significance (Feb 22, 2018)	no assertion criteria provided
Select item 13697854.	NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) GRCh37: Chr4:84206004 GRCh38: Chr4:83284851	COQ2, LOC112997540	R22*	not specified, not provided, Focal segmental glomerulosclerosis, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13697555.	NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) GRCh37: Chr4:84185511 GRCh38: Chr4:83264358	COQ2		not specified, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13697456.	NM_001358921.2(COQ2):c.762+14C>A GRCh37: Chr4:84190999 GRCh38: Chr4:83269846	COQ2		not specified, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to	Benign/Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12883057.	NM_001358921.2(COQ2):c.840C>T (p.Ser280=) GRCh37: Chr4:84188850 GRCh38: Chr4:83267697	COQ2		not specified, not provided, Coenzyme Q10 deficiency, primary, 1	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12882958.	NM_001358921.2(COQ2):c.744T>C (p.Asp248=) GRCh37: Chr4:84191031 GRCh38: Chr4:83269878	COQ2		not specified, not provided, Coenzyme Q10 deficiency, primary, 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12882859.	NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) GRCh37: Chr4:84205872 GRCh38: Chr4:83284719	COQ2, LOC112997540	V66L, V16L	not specified, Coenzyme Q10 deficiency, primary, 1, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6053660.	NM_001358921.2(COQ2):c.232A>G (p.Met78Val) GRCh37: Chr4:84205686 GRCh38: Chr4:83284533	COQ2, LOC112997540	M128V	Inborn genetic diseases, not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 144061.	NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) GRCh37: Chr4:84200234 GRCh38: Chr4:83279081	COQ2	S146N, S96N	Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Pathogenic (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143962.	NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) GRCh37: Chr4:84194658 GRCh38: Chr4:83273505	COQ2	N228S, N178S	Inborn genetic diseases, not provided, Coenzyme Q10 deficiency, primary, 1	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 143863.	NM_001358921.2(COQ2):c.440G>A (p.Arg147His) GRCh37: Chr4:84194751 GRCh38: Chr4:83273598	COQ2	R197H, R147H	not provided, Coenzyme Q10 deficiency, primary, 1, Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency, primary, 1	Pathogenic/Likely pathogenic (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143664.	NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) GRCh37: Chr4:84191035 GRCh38: Chr4:83269882	COQ2	Y297C, Y247C	not provided	Likely pathogenic (Nov 14, 2022)	criteria provided, single submitter

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Items: 64