ClinVar for Gene (Select 27235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076310	NM_001358921.2(COQ2):c.763-4T>C	COQ2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3076309	NM_001358921.2(COQ2):c.544A>T (p.Ile182Leu)	COQ2 (I182L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076308	NM_001358921.2(COQ2):c.364A>G (p.Met122Val)	COQ2 (M122V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076307	NM_001358921.2(COQ2):c.181G>A (p.Ala61Thr)	COQ2, LOC112997540 (A111T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3076306	NM_001358921.2(COQ2):c.79C>G (p.Arg27Gly)	COQ2, LOC112997540 (R27G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3069111	NM_001358921.2(COQ2):c.146C>A (p.Pro49His)	COQ2, LOC112997540 (P49H +1 more)	Single nucleotide variant (missense variant)	not specified	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 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
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 3046643	NM_001358921.2(COQ2):c.952-9C>G	COQ2	Single nucleotide variant (intron variant)	COQ2-related disorder	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 3036730	NM_001358921.2(COQ2):c.642T>C (p.Asn214=)	COQ2	Single nucleotide variant (synonymous variant)	COQ2-related disorder	GLikely benign
Select item 3032732	NM_001358921.2(COQ2):c.99T>A (p.Arg33=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	COQ2-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021852	NM_001358921.2(COQ2):c.801G>A (p.Thr267=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010900	NM_001358921.2(COQ2):c.542+17C>G	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010564	NM_001358921.2(COQ2):c.588A>G (p.Pro196=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008150	NM_001358921.2(COQ2):c.543-16_543-15insTGGTAATAATCACTTTAATGGTA	COQ2	Insertion (intron variant)	not provided	GLikely benign
Select item 3004759	NM_001358921.2(COQ2):c.183G>T (p.Ala61=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000912	NM_001358921.2(COQ2):c.9C>T (p.Gly3=)	COQ2, LOC112997540	Single nucleotide variant (synonymous 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 2995148	NM_015697.9(COQ2):c.84G>A (p.Ala28=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979351	NM_015697.9(COQ2):c.60T>C (p.Pro20=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979178	NM_001358921.2(COQ2):c.201G>A (p.Ala67=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979175	NM_015697.9(COQ2):c.108G>A (p.Arg36=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976792	NM_015697.9(COQ2):c.81T>G (p.Pro27=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976003	NM_015697.9(COQ2):c.48C>A (p.Thr16=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974827	NM_001358921.2(COQ2):c.629-3_629del	COQ2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2968268	NM_001358921.2(COQ2):c.542+11C>T	COQ2	Single nucleotide variant (intron variant)	not provided	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 2886511	NM_001358921.2(COQ2):c.621A>G (p.Leu207=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879736	NM_001358921.2(COQ2):c.-22T>G	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2876040	NM_001358921.2(COQ2):c.543-2A>G	COQ2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2869954	NM_001358921.2(COQ2):c.97C>T (p.Arg33Cys)	COQ2, LOC112997540 (R33C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869190	NM_001358921.2(COQ2):c.543-8C>G	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868433	NM_001358921.2(COQ2):c.211C>T (p.Leu71=)	LOC112997540, COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833721	NM_001358921.2(COQ2):c.253+9G>C	LOC112997540, COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817948	NM_001358921.2(COQ2):c.855A>C (p.Ala285=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815285	NM_001358921.2(COQ2):c.216G>A (p.Gln72=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806725	NM_001358921.2(COQ2):c.211del (p.Leu71fs)	COQ2, LOC112997540 (L71fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2804559	NM_001358921.2(COQ2):c.253+15G>A	COQ2	Single nucleotide variant (intron variant)	not provided	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 2798053	NM_001358921.2(COQ2):c.253+10G>C	COQ2, LOC112997540	Single nucleotide variant (intron variant)	not provided	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 2791468	NM_001358921.2(COQ2):c.421-10A>G	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782319	NM_001358921.2(COQ2):c.435C>G (p.Ala145=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780043	NM_001358921.2(COQ2):c.512T>C (p.Leu171Pro)	COQ2 (L171P +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 2772758	NM_001358921.2(COQ2):c.708T>C (p.Leu236=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768174	NM_001358921.2(COQ2):c.201G>T (p.Ala67=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765902	NM_001358921.2(COQ2):c.762+18del	COQ2	Deletion (intron variant)	not provided	GBenign
Select item 2754481	NM_001358921.2(COQ2):c.271T>C (p.Leu91=)	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 2685974	GRCh37/hg19 4q21.22-21.23(chr4:84048378-84973081)x3	ABRAXAS1, COQ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671934	NM_015697.9(COQ2):c.-4C>T	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant)	Multiple system atrophy 1, susceptibility to	GUncertain significance
Select item 2633919	NM_001358921.2(COQ2):c.2T>C (p.Met1Thr)	COQ2, LOC112997540 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	COQ2-related disorder	GUncertain significance
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 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 2582412	NM_001358921.2(COQ2):c.508del (p.Ala170fs)	COQ2 (A170fs +1 more)	Deletion (frameshift variant)	Multiple system atrophy 1, susceptibility to	GLikely pathogenic
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 2444449	NM_001358921.2(COQ2):c.261G>A (p.Trp87Ter)	COQ2 (W137* +1 more)	Single nucleotide variant (nonsense)	Neonatal encephalopathy +1 more	GPathogenic/Likely pathogenic
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 2426212	NC_000004.11:g.(?_84185352)_(84406225_?)del	ABRAXAS1, COQ2 +3 more	Deletion	not provided	GPathogenic
Select item 2420658	NM_001358921.2(COQ2):c.18C>T (p.Ala6=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417762	NM_001358921.2(COQ2):c.494G>A (p.Gly165Glu)	COQ2 (G165E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417258	NM_001358921.2(COQ2):c.763-8G>T	COQ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416043	NM_001358921.2(COQ2):c.746C>T (p.Thr249Ile)	COQ2 (T249I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414927	NM_001358921.2(COQ2):c.109G>A (p.Ala37Thr)	COQ2, LOC112997540 (A37T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2340622	NM_015697.9(COQ2):c.27G>C (p.Met9Ile)	COQ2, LOC112997540 (M9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299966	NM_001358921.2(COQ2):c.229C>T (p.Leu77Phe)	COQ2, LOC112997540 (L127F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299848	NM_001358921.2(COQ2):c.308C>T (p.Pro103Leu)	COQ2 (P103L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233033	NM_001358921.2(COQ2):c.670A>C (p.Ile224Leu)	COQ2 (I224L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231832	NM_015697.9(COQ2):c.49G>A (p.Ala17Thr)	COQ2, LOC112997540 (A17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203552	NM_015697.9(COQ2):c.96G>A (p.Ala32=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203551	NM_001358921.2(COQ2):c.551del (p.Leu184fs)	COQ2 (L184fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 2196542	NM_001358921.2(COQ2):c.-26G>C	LOC112997540, COQ2 (R42P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2189878	NM_001358921.2(COQ2):c.589C>T (p.Leu197=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181563	NM_001358921.2(COQ2):c.206G>A (p.Arg69His)	COQ2, LOC112997540 (R119H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178277	NM_001358921.2(COQ2):c.233T>C (p.Met78Thr)	COQ2, LOC112997540 (M128T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176400	NM_001358921.2(COQ2):c.849T>C (p.Ser283=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2171317	NM_001358921.2(COQ2):c.432A>G (p.Thr144=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170733	NM_001358921.2(COQ2):c.345_346inv (p.Gly116Ser)	COQ2 (G166S +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2168587	NM_001358921.2(COQ2):c.302C>T (p.Ala101Val)	COQ2 (A101V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165314	NM_001358921.2(COQ2):c.330C>T (p.Tyr110=)	COQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164054	NM_001358921.2(COQ2):c.450C>T (p.Ala150=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2163138	NM_001358921.2(COQ2):c.517G>A (p.Val173Ile)	COQ2 (V173I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162055	NM_001358921.2(COQ2):c.445A>G (p.Ile149Val)	COQ2 (I149V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2153382	NM_001358921.2(COQ2):c.145C>G (p.Pro49Ala)	COQ2, LOC112997540 (P49A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146523	NM_001358921.2(COQ2):c.208C>T (p.Pro70Ser)	COQ2, LOC112997540 (P120S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135132	NM_001358921.2(COQ2):c.249C>T (p.Pro83=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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