COQ7-DT[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 1267344	NC_000016.10:g.19067281del	COQ7, COQ7-DT	Deletion	not provided	GBenign
Select item 669474	NM_016138.4(COQ7):c.-357A>T	COQ7, COQ7-DT	Single nucleotide variant	not provided	GBenign
Select item 1316957	NR_119382.1(COQ7-DT):n.35A>G	COQ7, COQ7-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1316734	NC_000016.10:g.19067503G>T	COQ7, COQ7-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1316733	NR_119379.1(COQ7-DT):n.82C>T	COQ7, COQ7-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 3032882	NM_016138.5(COQ7):c.-11_-7dup	COQ7, COQ7-DT +1 more	Duplication (5 prime UTR variant +1 more)	COQ7-related condition	GUncertain significance
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 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 1463095	NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	COQ7, COQ7-DT +1 more (M1I)	Single nucleotide variant (missense variant +2 more)	Primary coenzyme Q10 deficiency 8 +1 more	GConflicting classifications of pathogenicity
Select item 1900546	NM_016138.5(COQ7):c.8G>T (p.Cys3Phe)	COQ7, COQ7-DT +1 more (C3F)	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 587429	NM_016138.5(COQ7):c.9C>A (p.Cys3Ter)	COQ7, COQ7-DT +1 more (C3*)	Single nucleotide variant (nonsense +1 more)	Primary coenzyme Q10 deficiency 8	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 2381641	NM_016138.5(COQ7):c.13G>C (p.Gly5Arg)	COQ7, COQ7-DT +1 more (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1900547	NM_016138.5(COQ7):c.14G>T (p.Gly5Val)	COQ7, COQ7-DT +1 more (G5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282807	NM_016138.5(COQ7):c.15GGC[5] (p.Ala9dup)	COQ7, COQ7-DT +1 more	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
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 2491599	NM_016138.5(COQ7):c.17C>T (p.Ala6Val)	COQ7, COQ7-DT +1 more (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1498446	NM_016138.5(COQ7):c.17_18delinsAA (p.Ala6Glu)	COQ7, COQ7-DT +1 more (A6E)	Indel (missense variant +1 more)	not provided	GUncertain significance
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 1479935	NM_016138.5(COQ7):c.20C>T (p.Ala7Val)	COQ7, COQ7-DT +1 more (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371564	NM_016138.5(COQ7):c.20C>G (p.Ala7Gly)	COQ7, COQ7-DT +1 more (A7G)	Single nucleotide variant (missense variant +1 more)	not provided	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 1481493	NM_016138.5(COQ7):c.25G>C (p.Ala9Pro)	COQ7, COQ7-DT +1 more (A9P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 27