ClinVar for Gene (Select 10229) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076332	NM_016138.5(COQ7):c.607A>T (p.Ile203Phe)	COQ7 (I189F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067651	NM_016138.5(COQ7):c.90C>G (p.Thr30=)	COQ7	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3062350	NM_016138.5(COQ7):c.613_617delinsCAT (p.Ala205fs)	COQ7 (A144fs +5 more)	Indel (frameshift variant +1 more)	Primary coenzyme Q10 deficiency 8	GPathogenic
Select item 3062349	NM_016138.5(COQ7):c.334A>G (p.Met112Val)	COQ7 (M112V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GPathogenic
Select item 3032882	NM_016138.5(COQ7):c.-11_-7dup	COQ7, COQ7-DT +1 more	Duplication (5 prime UTR variant +1 more)	COQ7-related disorder	GUncertain significance
Select item 3020716	NM_016138.5(COQ7):c.507+18A>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014336	NM_016138.5(COQ7):c.192C>T (p.Asn64=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008313	NM_016138.5(COQ7):c.271A>G (p.Lys91Glu)	COQ7 (K53E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007230	NM_016138.5(COQ7):c.414C>G (p.Thr138=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976041	NM_016138.5(COQ7):c.508-4C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969331	NM_016138.5(COQ7):c.630G>A (p.Ala210=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968328	NM_016138.5(COQ7):c.577-17C>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963322	NM_016138.5(COQ7):c.507+7A>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897178	NM_016138.5(COQ7):c.219C>G (p.Val73=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861403	NM_016138.5(COQ7):c.74-14C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855695	NM_016138.5(COQ7):c.138G>A (p.Arg46=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847479	NM_016138.5(COQ7):c.73+7G>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2837571	NM_016138.5(COQ7):c.128A>G (p.Asn43Ser)	COQ7 (N29S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834230	NM_016138.5(COQ7):c.73+9A>G	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2817613	NM_016138.5(COQ7):c.459C>T (p.Ile153=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809647	NM_016138.5(COQ7):c.585C>T (p.Ala195=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807043	NM_016138.5(COQ7):c.339C>T (p.Pro113=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780270	NM_016138.5(COQ7):c.576+13T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778063	NM_016138.5(COQ7):c.360T>C (p.Phe120=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2735231	NM_016138.5(COQ7):c.58C>A (p.Arg20=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 2646273	NM_016138.5(COQ7):c.15_25del (p.Ala6fs)	COQ7, COQ7-DT +1 more (A6fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2621421	NM_016138.5(COQ7):c.567T>G (p.Asp189Glu)	COQ7 (D175E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2585135	NM_016138.5(COQ7):c.218T>A (p.Val73Asp)	COQ7 (V59D +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 2584643	NM_016138.5(COQ7):c.467T>G (p.Leu156Arg)	COQ7 (L156R +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 9	GPathogenic
Select item 2584641	NM_016138.5(COQ7):c.467T>A (p.Leu156Gln)	COQ7 (L156Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 9	GPathogenic
Select item 2584640	NM_016138.5(COQ7):c.253-2A>T	COQ7	Single nucleotide variant (splice acceptor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 9	GPathogenic
Select item 2584639	NM_016138.5(COQ7):c.1A>G (p.Met1Val)	COQ7, COQ7-DT +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, autosomal recessive 9	GPathogenic
Select item 2584462	NM_016138.5(COQ7):c.28_44dup (p.Arg16fs)	COQ7, COQ7-DT +1 more (R16fs)	Duplication (frameshift variant +1 more)	Primary coenzyme Q10 deficiency 8	GLikely pathogenic
Select item 2580230	NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)	COQ7 (R16W +2 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GUncertain significance
Select item 2575730	NM_016138.5(COQ7):c.73+83_73+97del	COQ7, LOC130058588	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 2573010	NM_016138.5(COQ7):c.1A>C (p.Met1Leu)	COQ7, COQ7-DT +1 more (M1L)	Single nucleotide variant (missense variant +2 more)	Primary coenzyme Q10 deficiency 8	GLikely pathogenic
Select item 2507386	NM_016138.5(COQ7):c.332T>C (p.Leu111Pro)	COQ7 (L73P +1 more)	Single nucleotide variant (missense variant +1 more)	Primary coenzyme Q10 deficiency 8	GPathogenic
Select item 2491599	NM_016138.5(COQ7):c.17C>T (p.Ala6Val)	COQ7, COQ7-DT +1 more (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426273	NC_000016.9:g.(?_18794331)_(19089480_?)dup	ARL6IP1, COQ7 +3 more	Duplication	not provided	GUncertain significance
Select item 2426272	NC_000016.9:g.(?_19085223)_(19089480_?)dup	COQ7	Duplication	not provided	GUncertain significance
Select item 2426271	NC_000016.9:g.(?_19078987)_(19085377_?)del	COQ7	Deletion	not provided	GUncertain significance
Select item 2419348	NM_016138.5(COQ7):c.226C>T (p.Arg76Trp)	COQ7 (R38W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414960	NM_016138.5(COQ7):c.388G>A (p.Gly130Arg)	COQ7 (G116R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2381641	NM_016138.5(COQ7):c.13G>C (p.Gly5Arg)	COQ7, COQ7-DT +1 more (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2192686	NM_016138.5(COQ7):c.466C>T (p.Leu156=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187215	NM_016138.5(COQ7):c.563A>G (p.His188Arg)	COQ7 (H150R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2177395	NM_016138.5(COQ7):c.464C>T (p.Thr155Met)	COQ7 (T141M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174563	NM_016138.5(COQ7):c.252+10T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2164621	NM_016138.5(COQ7):c.372G>A (p.Ala124=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2150674	NM_016138.5(COQ7):c.592G>A (p.Val198Ile)	COQ7 (V175I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2134059	NM_016138.5(COQ7):c.73+13G>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2117567	NM_016138.5(COQ7):c.60G>T (p.Arg20=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2104948	NM_016138.5(COQ7):c.577-3C>T	COQ7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2099128	NM_016138.5(COQ7):c.379G>C (p.Ala127Pro)	COQ7 (A127P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097666	NM_016138.5(COQ7):c.66C>T (p.Ser22=)	COQ7, LOC130058587	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2096701	NM_016138.5(COQ7):c.121_122del (p.Leu41fs)	COQ7 (L27fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2094663	NM_016138.5(COQ7):c.627G>A (p.Val209=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2093989	NM_016138.5(COQ7):c.182A>G (p.Tyr61Cys)	COQ7 (Y23C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084013	NM_016138.5(COQ7):c.420G>A (p.Ala140=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2080150	NM_016138.5(COQ7):c.293A>C (p.Asn98Thr)	COQ7 (N60T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077437	NM_016138.5(COQ7):c.616G>A (p.Gly206Arg)	COQ7 (G145R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2067383	NM_016138.5(COQ7):c.137G>A (p.Arg46Gln)	COQ7 (R32Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2066950	NM_016138.5(COQ7):c.401C>T (p.Ala134Val)	COQ7 (A96V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066947	NM_016138.5(COQ7):c.73+1G>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2024330	NM_016138.5(COQ7):c.219C>A (p.Val73=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015966	NM_016138.5(COQ7):c.73+13G>C	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2010625	NM_016138.5(COQ7):c.609C>G (p.Ile203Met)	COQ7 (I142M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008503	NM_016138.5(COQ7):c.15GGC[3] (p.Ala9del)	COQ7, COQ7-DT +1 more (A9del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2000292	NM_016138.5(COQ7):c.54G>C (p.Gly18=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1995683	NM_016138.5(COQ7):c.322C>A (p.Pro108Thr)	COQ7 (P94T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990711	NM_016138.5(COQ7):c.576+12C>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987145	NM_016138.5(COQ7):c.227G>A (p.Arg76Gln)	COQ7 (R76Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981744	NM_016138.5(COQ7):c.558C>T (p.Leu186=)	COQ7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1978936	NM_016138.5(COQ7):c.378C>T (p.Thr126=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974005	NM_016138.5(COQ7):c.118A>G (p.Thr40Ala)	COQ7 (T2A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973243	NM_016138.5(COQ7):c.65C>T (p.Ser22Phe)	COQ7, LOC130058587 (S22F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1973239	NM_016138.5(COQ7):c.574T>G (p.Leu192Val)	COQ7 (L192V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1967613	NM_016138.5(COQ7):c.43C>T (p.Leu15=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962923	NM_016138.5(COQ7):c.466C>G (p.Leu156Val)	COQ7 (L156V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962488	NM_016138.5(COQ7):c.245del (p.Val82fs)	COQ7 (V68fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1953790	NM_016138.5(COQ7):c.204C>T (p.Ala68=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952416	NM_016138.5(COQ7):c.203C>G (p.Ala68Gly)	COQ7 (A68G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949824	NM_016138.5(COQ7):c.9C>T (p.Cys3=)	COQ7, COQ7-DT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1949115	NM_016138.5(COQ7):c.507G>C (p.Gln169His)	COQ7 (Q131H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1945255	NM_016138.5(COQ7):c.291C>G (p.Phe97Leu)	COQ7 (F59L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1943280	NM_016138.5(COQ7):c.23C>T (p.Ala8Val)	COQ7, COQ7-DT +1 more (A8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1938844	NM_016138.5(COQ7):c.55G>T (p.Ala19Ser)	COQ7, LOC130058587 (A19S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1937140	NM_016138.5(COQ7):c.47G>T (p.Arg16Leu)	COQ7, LOC130058587 (R16L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932314	NM_016138.5(COQ7):c.367+7G>A	COQ7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1925901	NM_016138.5(COQ7):c.436G>A (p.Ala146Thr)	COQ7 (A146T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924831	NM_016138.5(COQ7):c.320G>A (p.Arg107Gln)	COQ7 (R107Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924006	NM_016138.5(COQ7):c.367+14T>C	COQ7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1923843	NM_016138.5(COQ7):c.252+18T>G	COQ7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922661	NM_016138.5(COQ7):c.55G>A (p.Ala19Thr)	COQ7, LOC130058587 (A19T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917364	NM_016138.5(COQ7):c.292A>G (p.Asn98Asp)	COQ7 (N98D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908136	NM_016138.5(COQ7):c.367+13C>T	COQ7	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1908021	NM_016138.5(COQ7):c.200A>G (p.Tyr67Cys)	COQ7 (Y53C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906504	NM_016138.5(COQ7):c.177C>T (p.Gly59=)	COQ7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906391	NM_016138.5(COQ7):c.72A>C (p.Ser24=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance

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