"Ambry Genetics"[submitter] AND "COQ10B"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2600240	NM_025147.5(COQ10B):c.122G>T (p.Gly41Val)	COQ10B (G13V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076302	NM_025147.5(COQ10B):c.167C>G (p.Pro56Arg)	COQ10B (P13R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548008	NM_025147.5(COQ10B):c.197A>G (p.Lys66Arg)	COQ10B (K23R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325626	NM_025147.5(COQ10B):c.206C>A (p.Ala69Glu)	COQ10B (A26E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261817	NM_025147.5(COQ10B):c.220A>G (p.Lys74Glu)	COQ10B (K31E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601504	NM_025147.5(COQ10B):c.255A>G (p.Gly85=)	COQ10B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2379264	NM_025147.5(COQ10B):c.496C>T (p.Arg166Cys)	COQ10B (R116C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076303	NM_025147.5(COQ10B):c.506C>T (p.Pro169Leu)	COQ10B (P126L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464439	NM_025147.5(COQ10B):c.577C>T (p.His193Tyr)	COQ10B (H150Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367026	NM_025147.5(COQ10B):c.605A>G (p.Asp202Gly)	COQ10B (D152G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076304	NM_025147.5(COQ10B):c.632C>T (p.Ala211Val)	COQ10B (A211V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance