ClinVar for MedGen (Select 811503) - ClinVar

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Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824121.	NM_001358921.2(COQ2):c.508del (p.Ala170fs) GRCh37: Chr4:84194683 GRCh38: Chr4:83273530	COQ2	A170fs, A220fs	Multiple system atrophy 1, susceptibility to	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 16983552.	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 16980403.	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 16955034.	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 16839465.	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 16575776.	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 16408657.	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 15957498.	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 15951979.	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 151152310.	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 151065011.	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 148499612.	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 147477313.	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 144944614.	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 143875015.	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 138626716.	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 138192617.	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 137303918.	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 135843819.	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 135752420.	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 134158821.	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 128520322.	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 103192923.	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 103192824.	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 63837225.	NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) GRCh37: Chr17:44060834 GRCh38: Chr17:45983468	MAPT	R222S, R297S	Multiple system atrophy, Pick disease, Frontotemporal dementia, Progressive supranuclear ophthalmoplegia	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 59082926.	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 43955127.	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 38497628.	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 37774129.	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 37774030.	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 26067731.	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 21422832.	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 13697833.	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 13697534.	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 13697435.	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 6053636.	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 144037.	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 143838.	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

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Items: 38