ClinVar for Gene (Select 57017) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363718	NM_020312.4(COQ9):c.124G>A (p.Val42Met)	COQ9 (V42M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361533	NM_020312.4(COQ9):c.938del (p.Gly313fs)	COQ9 (G313fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3357406	NM_020312.4(COQ9):c.-9G>C	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	COQ9-related disorder	GLikely benign
Select item 3268993	NM_020312.4(COQ9):c.35G>A (p.Arg12Gln)	COQ9, LOC112469007 (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268992	NM_020312.4(COQ9):c.38C>A (p.Ala13Glu)	COQ9, LOC112469007 (A13E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3076337	NM_020312.4(COQ9):c.938G>A (p.Gly313Asp)	COQ9 (G313D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076336	NM_020312.4(COQ9):c.737T>C (p.Met246Thr)	COQ9 (M246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076335	NM_020312.4(COQ9):c.521+2T>C	COQ9	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3047968	NM_020312.4(COQ9):c.242+3A>G	COQ9	Single nucleotide variant (intron variant)	COQ9-related disorder	GLikely benign
Select item 3031988	NM_020312.4(COQ9):c.606+8G>A	COQ9	Single nucleotide variant (intron variant)	COQ9-related disorder	GLikely benign
Select item 3030871	NM_020312.4(COQ9):c.915A>C (p.Ala305=)	COQ9	Single nucleotide variant (synonymous variant)	COQ9-related disorder	GLikely benign
Select item 3019800	NM_020312.4(COQ9):c.462T>C (p.Asn154=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012805	NM_020312.4(COQ9):c.729C>G (p.Arg243=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009213	NM_020312.4(COQ9):c.12G>T (p.Ala4=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006603	NM_020312.4(COQ9):c.798T>C (p.Phe266=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999625	NM_020312.4(COQ9):c.465C>G (p.Thr155=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994536	NM_020312.4(COQ9):c.922-14C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989236	NM_020312.4(COQ9):c.73+20G>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986287	NM_020312.4(COQ9):c.741G>C (p.Leu247=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982578	NM_020312.4(COQ9):c.894G>A (p.Val298=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968622	NM_020312.4(COQ9):c.242+16C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963094	NM_020312.4(COQ9):c.921+12C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960966	NM_020312.4(COQ9):c.618C>T (p.Ile206=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915201	NM_020312.4(COQ9):c.96G>T (p.Leu32=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910403	NM_020312.4(COQ9):c.711+3G>C	COQ9	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2902997	NM_020312.4(COQ9):c.522-7C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880684	NM_020312.4(COQ9):c.884A>C (p.Glu295Ala)	COQ9 (E295A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878975	NM_020312.4(COQ9):c.120A>C (p.Ser40=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866402	NM_020312.4(COQ9):c.870A>G (p.Val290=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857069	NM_020312.4(COQ9):c.276C>T (p.Asp92=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853965	NM_020312.4(COQ9):c.379-11C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841458	NM_020312.4(COQ9):c.429T>C (p.Ser143=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835514	NM_020312.4(COQ9):c.297GCA[3] (p.Gln100_His101insGln)	COQ9	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2802984	NM_020312.4(COQ9):c.868-20C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791976	NM_020312.4(COQ9):c.714T>C (p.Phe238=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768276	NM_020312.4(COQ9):c.708T>C (p.Thr236=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764311	NM_020312.4(COQ9):c.549G>A (p.Arg183=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754728	NM_020312.4(COQ9):c.444T>C (p.His148=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748875	NM_020312.4(COQ9):c.744T>C (p.Ala248=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739959	NM_020312.4(COQ9):c.468G>A (p.Arg156=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704388	NM_020312.4(COQ9):c.74-10del	COQ9	Deletion (intron variant)	not provided	GLikely benign
Select item 2693650	NM_020312.4(COQ9):c.712-17T>C	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2681209	NM_020312.4(COQ9):c.314C>T (p.Thr105Met)	COQ9 (T105M)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2646557	NM_020312.4(COQ9):c.867+7G>A	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637678	NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)	COQ9 (Q53*)	Single nucleotide variant (nonsense)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 2541194	NM_020312.4(COQ9):c.116C>T (p.Ala39Val)	COQ9 (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486975	NM_020312.4(COQ9):c.281A>C (p.Glu94Ala)	COQ9 (E94A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430700	NM_020312.4(COQ9):c.14C>A (p.Ala5Glu)	COQ9, LOC112469007 (A5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2420690	NM_020312.4(COQ9):c.51C>T (p.Leu17=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419498	NM_020312.4(COQ9):c.649C>T (p.Leu217=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417926	NM_020312.4(COQ9):c.14C>G (p.Ala5Gly)	COQ9, LOC112469007 (A5G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2339131	NM_020312.4(COQ9):c.86G>A (p.Arg29Gln)	COQ9 (R29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2312457	NM_020312.4(COQ9):c.746C>T (p.Ala249Val)	COQ9 (A249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281764	NM_020312.4(COQ9):c.654C>A (p.Ser218Arg)	COQ9 (S218R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230197	NM_020312.4(COQ9):c.867+5G>A	COQ9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2199291	NM_020312.4(COQ9):c.124G>T (p.Val42Leu)	COQ9 (V42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195442	NM_020312.4(COQ9):c.586T>C (p.Tyr196His)	COQ9 (Y196H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195294	NM_020312.4(COQ9):c.892G>C (p.Val298Leu)	COQ9 (V298L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192549	NM_020312.4(COQ9):c.651G>A (p.Leu217=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187248	NM_020312.4(COQ9):c.104G>A (p.Arg35His)	COQ9 (R35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181285	NM_020312.4(COQ9):c.701A>G (p.Gln234Arg)	COQ9 (Q234R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180633	NM_020312.4(COQ9):c.285T>C (p.Ser95=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179708	NM_020312.4(COQ9):c.522-9C>A	COQ9	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2179469	NM_020312.4(COQ9):c.829G>T (p.Val277Phe)	COQ9 (V277F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178744	NM_020312.4(COQ9):c.922-8C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168035	NM_020312.4(COQ9):c.911C>T (p.Ala304Val)	COQ9 (A304V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167477	NM_020312.4(COQ9):c.920C>T (p.Thr307Met)	COQ9 (T307M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163209	NM_020312.4(COQ9):c.641C>T (p.Pro214Leu)	COQ9 (P214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150302	NM_020312.4(COQ9):c.924C>T (p.Leu308=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130830	NM_020312.4(COQ9):c.522-15_522-11del	COQ9	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2123499	NM_020312.4(COQ9):c.589A>G (p.Ile197Val)	COQ9 (I197V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118800	NM_020312.4(COQ9):c.671T>C (p.Val224Ala)	COQ9 (V224A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118524	NM_020312.4(COQ9):c.867+18A>G	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108814	NM_020312.4(COQ9):c.655C>T (p.Leu219=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107371	NM_020312.4(COQ9):c.522-10C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2102357	NM_020312.4(COQ9):c.881G>T (p.Gly294Val)	COQ9 (G294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099960	NM_020312.4(COQ9):c.780_781delinsTT (p.Gln260_Asp261delinsHisTyr)	COQ9	Indel (missense variant)	not provided	GUncertain significance
Select item 2089203	NM_020312.4(COQ9):c.827G>A (p.Arg276Gln)	COQ9 (R276Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088621	NM_020312.4(COQ9):c.924C>G (p.Leu308=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078659	NM_020312.4(COQ9):c.267G>A (p.Glu89=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064126	NM_020312.4(COQ9):c.556G>C (p.Val186Leu)	COQ9 (V186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036235	NM_020312.4(COQ9):c.132A>G (p.Leu44=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032195	NM_020312.4(COQ9):c.243-12C>G	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029732	NM_020312.4(COQ9):c.85C>T (p.Arg29Ter)	COQ9 (R29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2021204	NM_020312.4(COQ9):c.679dup (p.Met227fs)	COQ9 (M227fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2019266	NM_020312.4(COQ9):c.823A>G (p.Asn275Asp)	COQ9 (N275D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007921	NM_020312.4(COQ9):c.748A>G (p.Ile250Val)	COQ9 (I250V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007207	NM_020312.4(COQ9):c.385G>C (p.Gly129Arg)	COQ9 (G129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002912	NM_020312.4(COQ9):c.71C>A (p.Pro24His)	COQ9, LOC112469007 (P24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000246	NM_020312.4(COQ9):c.922-7G>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997223	NM_020312.4(COQ9):c.235C>T (p.Pro79Ser)	COQ9 (P79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986893	NM_020312.4(COQ9):c.378+8T>C	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979297	NM_020312.4(COQ9):c.922-7G>A	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978688	NM_020312.4(COQ9):c.88C>G (p.Gln30Glu)	COQ9 (Q30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974106	NM_020312.4(COQ9):c.485A>G (p.Glu162Gly)	COQ9 (E162G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972574	NM_020312.4(COQ9):c.731G>A (p.Arg244Gln)	COQ9 (R244Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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