Related gene-specific medical variations for Gene (Select 10229) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374889	NM_016138.5(COQ7):c.71C>G (p.Ser24Ter)	COQ7, LOC130058587 (S24*)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 3268990	NM_016138.5(COQ7):c.8G>C (p.Cys3Ser)	COQ7, COQ7-DT +1 more (C3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 2097666	NM_016138.5(COQ7):c.66C>T (p.Ser22=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2015966	NM_016138.5(COQ7):c.73+13G>C	LOC130058587, COQ7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2008503	NM_016138.5(COQ7):c.15GGC[3] (p.Ala9del)	LOC130058587, COQ7 +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 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 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 1949824	NM_016138.5(COQ7):c.9C>T (p.Cys3=)	COQ7, COQ7-DT +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943280	NM_016138.5(COQ7):c.23C>T (p.Ala8Val)	COQ7, COQ7-DT +1 more (A8V)	Single nucleotide variant (missense 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 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 1906391	NM_016138.5(COQ7):c.72A>C (p.Ser24=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1904428	NM_016138.5(COQ7):c.73+16C>T	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 1524273	NM_016138.5(COQ7):c.53G>C (p.Gly18Ala)	COQ7, LOC130058587 (G18A)	Single nucleotide variant (missense variant +1 more)	not provided	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 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
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 1470281	NM_016138.5(COQ7):c.73+2T>A	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1439639	NM_016138.5(COQ7):c.53G>A (p.Gly18Glu)	COQ7, LOC130058587 (G18E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388541	NM_016138.5(COQ7):c.73+5A>G	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR 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 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 1268907	NM_016138.5(COQ7):c.50C>T (p.Pro17Leu)	COQ7, LOC130058587 (P17L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 683572	NM_016138.5(COQ7):c.73+36T>G	COQ7, LOC130058587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 669701	NM_016138.5(COQ7):c.73+111C>A	LOC130058588, COQ7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669700	NM_016138.5(COQ7):c.51G>A (p.Pro17=)	COQ7, LOC130058587	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 445382	NM_016138.5(COQ7):c.614_617dup (p.Cys207fs)	COQ7 (C170fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 46