ClinVar for MedGen (Select 764868) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256712	NM_001358921.2(COQ2):c.421G>C (p.Val141Leu)	COQ2 (V141L +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 3063569	NM_001358921.2(COQ2):c.298G>A (p.Ala100Thr)	COQ2 (A100T +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
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 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 2440515	NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)	COQ2, LOC112997540 (P20S)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 2440514	NM_001358921.2(COQ2):c.762+1G>A	COQ2	Single nucleotide variant (splice donor variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 2440513	NM_001358921.2(COQ2):c.254-2A>T	COQ2	Single nucleotide variant (splice acceptor variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 2439498	NM_001358921.2(COQ2):c.-27C>T	COQ2, LOC112997540 (R42*)	Single nucleotide variant (5 prime UTR variant +1 more)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
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 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 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 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 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 1640865	NM_001358921.2(COQ2):c.542+12G>A	COQ2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely benign
Select item 1595749	NM_001358921.2(COQ2):c.831G>A (p.Pro277=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1595197	NM_001358921.2(COQ2):c.885G>A (p.Val295=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1511523	NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp)	COQ2, LOC112997540 (S4W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1510650	NM_001358921.2(COQ2):c.89C>T (p.Ala30Val)	COQ2, LOC112997540 (A80V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1484996	NM_001358921.2(COQ2):c.182C>T (p.Ala61Val)	COQ2, LOC112997540 (A111V +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1474773	NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp)	COQ2 (R320W +1 more)	Single nucleotide variant (missense variant)	Multiple system atrophy 1, susceptibility to +3 more	GUncertain significance
Select item 1449446	NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr)	COQ2 (A151T +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1438750	NM_001358921.2(COQ2):c.-2C>G	COQ2, LOC112997540 (A50G)	Single nucleotide variant (5 prime UTR variant +1 more)	Coenzyme Q10 deficiency, primary, 1 +3 more	GUncertain significance
Select item 1386267	NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu)	COQ2 (P327L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1381926	NM_015697.9(COQ2):c.94G>A (p.Ala32Thr)	COQ2, LOC112997540 (A32T)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
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 1358438	NM_015697.9(COQ2):c.83C>A (p.Ala28Glu)	COQ2, LOC112997540 (A28E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1357524	NM_015697.9(COQ2):c.57G>T (p.Gln19His)	COQ2, LOC112997540 (Q19H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 1324157	NM_001358921.2(COQ2):c.762+1G>T	COQ2	Single nucleotide variant (splice donor variant)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
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 1184489	NM_015697.9(COQ2):c.115A>T (p.Thr39Ser)	COQ2, LOC112997540 (T39S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031931	NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu)	COQ2 (G164E +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 1031929	NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)	COQ2 (A309S +1 more)	Single nucleotide variant (missense variant)	Multiple system atrophy 1, susceptibility to +2 more	GUncertain significance
Select item 1031928	NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)	COQ2 (S297C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1027998	NM_015697.9(COQ2):c.97C>T (p.His33Tyr)	COQ2, LOC112997540 (H33Y)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 930030	NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)	COQ8A (S95fs)	Deletion (frameshift variant)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
Select item 830038	NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr)	COQ2 (A220T +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 813911	NM_001358921.2(COQ2):c.253+4A>T	COQ2, LOC112997540	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 807401	NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn)	COQ2, LOC112997540 (Y74N +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
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 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 590828	NM_001195248.2(APTX):c.-5+2T>G	APTX	Single nucleotide variant (5 prime UTR variant +3 more)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 590826	NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu)	COQ8A	Single nucleotide variant (stop lost)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 590825	NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter)	COQ8A (Q647*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 590809	NM_020247.5(COQ8A):c.*72dup	COQ8A	Duplication (3 prime UTR variant)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
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 522423	NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg)	COQ2 (P285R +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 375340	NM_001358921.2(COQ2):c.1047del (p.Asn351fs)	COQ2 (N401fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 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 214225	NM_015697.9(COQ2):c.16C>A (p.Gln6Lys)	COQ2, LOC112997540 (Q6K)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	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 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 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 136974	NM_001358921.2(COQ2):c.762+14C>A	COQ2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 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 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 60536	NM_001358921.2(COQ2):c.232A>G (p.Met78Val)	COQ2, LOC112997540 (M128V)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1440	NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)	COQ2 (S146N +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +1 more	GPathogenic
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 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 1436	NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)	COQ2 (Y297C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 69