"Ambry Genetics"[submitter] AND "ACAT2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135833	NM_005891.3(ACAT2):c.65A>G (p.Asn22Ser)	ACAT2 (N22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485393	NM_005891.3(ACAT2):c.65A>C (p.Asn22Thr)	ACAT2 (N22T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476437	NM_005891.3(ACAT2):c.193T>G (p.Cys65Gly)	ACAT2 (C94G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298958	NM_005891.3(ACAT2):c.419T>A (p.Met140Lys)	ACAT2 (M140K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135827	NM_005891.3(ACAT2):c.472T>C (p.Cys158Arg)	ACAT2 (C158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135830	NM_005891.3(ACAT2):c.573T>G (p.Asn191Lys)	ACAT2 (N191K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337769	NM_005891.3(ACAT2):c.672T>A (p.His224Gln)	ACAT2 (H253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135839	NM_005891.3(ACAT2):c.719C>G (p.Thr240Ser)	ACAT2 (T240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384679	NM_005891.3(ACAT2):c.784G>A (p.Val262Ile)	ACAT2 (V291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595661	NM_005891.3(ACAT2):c.790A>C (p.Met264Leu)	ACAT2 (M293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135843	NM_005891.3(ACAT2):c.798G>C (p.Lys266Asn)	ACAT2 (K266N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324589	NM_005891.3(ACAT2):c.857T>C (p.Val286Ala)	ACAT2 (V315A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135845	NM_005891.3(ACAT2):c.859G>A (p.Gly287Ser)	ACAT2 (G316S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537260	NM_005891.3(ACAT2):c.867G>T (p.Glu289Asp)	ACAT2 (E289D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528785	NM_005891.3(ACAT2):c.868C>T (p.Pro290Ser)	ACAT2 (P290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515909	NM_005891.3(ACAT2):c.962A>G (p.Asn321Ser)	ACAT2 (N321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508796	NM_005891.3(ACAT2):c.968C>G (p.Ala323Gly)	ACAT2 (A323G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301753	NM_005891.3(ACAT2):c.989C>T (p.Ala330Val)	ACAT2 (A330V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377858	NM_005891.3(ACAT2):c.1042G>T (p.Ala348Ser)	ACAT2, TCP1 (A348S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280609	NM_005891.3(ACAT2):c.1070C>G (p.Ala357Gly)	ACAT2, TCP1 (A357G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491863	NM_005891.3(ACAT2):c.1105A>G (p.Thr369Ala)	ACAT2, TCP1 (T369A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340561	NM_005891.3(ACAT2):c.1118T>C (p.Met373Thr)	ACAT2, TCP1 (M402T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2536856	NM_005891.3(ACAT2):c.1126A>G (p.Ser376Gly)	ACAT2, TCP1 (S376G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538371	NM_030752.3(TCP1):c.1641T>A (p.Asp547Glu)	ACAT2, TCP1 (D547E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 24