"Ambry Genetics"[submitter] AND "CYP2C8"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2600187	NM_000770.3(CYP2C8):c.934C>A (p.Leu312Ile)	CYP2C8 (L210I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305542	NM_000770.3(CYP2C8):c.931C>G (p.Leu311Val)	CYP2C8 (L241V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607011	NM_000770.3(CYP2C8):c.754C>G (p.Gln252Glu)	CYP2C8 (Q150E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243270	NM_000770.3(CYP2C8):c.753C>A (p.His251Gln)	CYP2C8 (H181Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319519	NM_000770.3(CYP2C8):c.742G>A (p.Val248Ile)	CYP2C8 (V178I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2283329	NM_000770.3(CYP2C8):c.614T>G (p.Phe205Cys)	CYP2C8 (F135C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234415	NM_000770.3(CYP2C8):c.609A>C (p.Glu203Asp)	CYP2C8 (E133D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255325	NM_000770.3(CYP2C8):c.520C>T (p.Pro174Ser)	CYP2C8 (P104S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559398	NM_000770.3(CYP2C8):c.422T>C (p.Ile141Thr)	CYP2C8 (I141T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288719	NM_000770.3(CYP2C8):c.223G>A (p.Val75Met)	CYP2C8 (V5M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211411	NM_000770.3(CYP2C8):c.91C>T (p.Pro31Ser)	CYP2C8 (P31S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance