"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COQ8B"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559232	NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)	COQ8B (Y455C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 516780	NM_024876.4(COQ8B):c.1347C>T (p.Phe449=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 380036	NM_024876.4(COQ8B):c.1119C>T (p.Phe373=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 380101	NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg)	COQ8B (T352R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 379941	NM_024876.4(COQ8B):c.1035+7T>C	COQ8B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1704138	NM_024876.4(COQ8B):c.872C>T (p.Ala291Val)	COQ8B (A250V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379940	NM_024876.4(COQ8B):c.768G>A (p.Ala256=)	COQ8B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1943446	NM_024876.4(COQ8B):c.695C>T (p.Thr232Met)	COQ8B (T191M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380507	NM_024876.4(COQ8B):c.648C>T (p.Ala216=)	COQ8B	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 1349347	NM_024876.4(COQ8B):c.520_521inv (p.His174Cys)	COQ8B (H174C +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 379939	NM_024876.4(COQ8B):c.521A>G (p.His174Arg)	COQ8B (H174R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 517051	NM_024876.4(COQ8B):c.381G>A (p.Gly127=)	COQ8B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 380444	NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys)	COQ8B (R78C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 559233	NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp)	COQ8B (R63W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 380045	NM_024876.4(COQ8B):c.9G>A (p.Leu3=)	COQ8B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign