ACOT11[gene] and "single gene"[properties] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396139	NM_147161.4(ACOT11):c.67C>T (p.Arg23Trp)	ACOT11 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524336	NM_147161.4(ACOT11):c.86C>T (p.Ala29Val)	ACOT11 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137348	NM_147161.4(ACOT11):c.124C>T (p.Arg42Trp)	ACOT11 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786988	NM_147161.4(ACOT11):c.159G>A (p.Val53=)	ACOT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541828	NM_147161.4(ACOT11):c.161T>C (p.Leu54Pro)	ACOT11 (L54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137385	NM_147161.4(ACOT11):c.284A>G (p.Asp95Gly)	ACOT11 (D95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474245	NM_147161.4(ACOT11):c.323T>G (p.Val108Gly)	ACOT11 (V108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370032	NM_147161.4(ACOT11):c.491C>T (p.Thr164Met)	ACOT11 (T164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273307	NM_147161.4(ACOT11):c.497G>A (p.Arg166Gln)	ACOT11 (R166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206796	NM_147161.4(ACOT11):c.541C>T (p.Arg181Trp)	ACOT11 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367829	NM_147161.4(ACOT11):c.542G>A (p.Arg181Gln)	ACOT11 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137404	NM_147161.4(ACOT11):c.545G>A (p.Arg182His)	ACOT11 (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137406	NM_147161.4(ACOT11):c.556G>A (p.Val186Ile)	ACOT11 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465254	NM_147161.4(ACOT11):c.560A>G (p.Tyr187Cys)	ACOT11 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495159	NM_147161.4(ACOT11):c.591C>G (p.Asn197Lys)	ACOT11 (N197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207968	NM_147161.4(ACOT11):c.625T>C (p.Cys209Arg)	ACOT11 (C209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376880	NM_147161.4(ACOT11):c.631C>T (p.Arg211Cys)	ACOT11 (R211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209835	NM_147161.4(ACOT11):c.641C>T (p.Pro214Leu)	ACOT11 (P214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137446	NM_147161.4(ACOT11):c.644C>A (p.Ala215Asp)	ACOT11 (A215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137459	NM_147161.4(ACOT11):c.680T>C (p.Leu227Pro)	ACOT11 (L227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243366	NM_147161.4(ACOT11):c.718G>A (p.Gly240Ser)	ACOT11 (G240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137464	NM_147161.4(ACOT11):c.767G>A (p.Arg256Gln)	ACOT11 (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786989	NM_147161.4(ACOT11):c.884+6G>T	ACOT11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137466	NM_147161.4(ACOT11):c.910G>A (p.Ala304Thr)	ACOT11 (A304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137467	NM_147161.4(ACOT11):c.916C>T (p.Arg306Cys)	ACOT11 (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137468	NM_147161.4(ACOT11):c.917G>A (p.Arg306His)	ACOT11 (R306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554501	NM_147161.4(ACOT11):c.1016G>A (p.Arg339Gln)	ACOT11 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536928	NM_147161.4(ACOT11):c.1016G>C (p.Arg339Pro)	ACOT11 (R339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455436	NM_147161.4(ACOT11):c.1039C>T (p.Arg347Trp)	ACOT11 (R347W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137338	NM_147161.4(ACOT11):c.1043G>A (p.Arg348Gln)	ACOT11 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549617	NM_147161.4(ACOT11):c.1076G>T (p.Arg359Leu)	ACOT11 (R359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137343	NM_147161.4(ACOT11):c.1145G>C (p.Ser382Thr)	ACOT11 (S382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137345	NM_147161.4(ACOT11):c.1150C>G (p.Gln384Glu)	ACOT11 (Q384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479891	NM_147161.4(ACOT11):c.1164C>G (p.Ser388Arg)	ACOT11 (S388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342636	NM_147161.4(ACOT11):c.1187A>C (p.Lys396Thr)	ACOT11 (K396T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638829	NM_147161.4(ACOT11):c.1223C>T (p.Ser408Leu)	ACOT11 (S408L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3137350	NM_147161.4(ACOT11):c.1380G>T (p.Glu460Asp)	ACOT11 (E460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621411	NM_147161.4(ACOT11):c.1464C>G (p.Phe488Leu)	ACOT11 (F488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137355	NM_147161.4(ACOT11):c.1465G>A (p.Val489Met)	ACOT11 (V489M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496292	NM_147161.4(ACOT11):c.1477T>A (p.Ser493Thr)	ACOT11 (S493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719706	NM_147161.4(ACOT11):c.1518C>T (p.Ile506=)	ACOT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137364	NM_147161.4(ACOT11):c.1520C>T (p.Ala507Val)	ACOT11 (A507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525587	NM_147161.4(ACOT11):c.1523T>C (p.Leu508Pro)	ACOT11 (L508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472608	NM_147161.4(ACOT11):c.1528T>C (p.Ser510Pro)	ACOT11 (S510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137375	NM_147161.4(ACOT11):c.1556C>T (p.Thr519Met)	ACOT11 (T519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237183	NM_147161.4(ACOT11):c.1571G>A (p.Arg524His)	ACOT11 (R524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369421	NM_147161.4(ACOT11):c.1585T>C (p.Cys529Arg)	ACOT11 (C529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789922	NM_147161.4(ACOT11):c.1629+9G>A	ACOT11	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 48