ACSS1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 3263381	NM_032501.4(ACSS1):c.2047G>A (p.Asp683Asn)	ACSS1 (D562N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221832	NM_032501.4(ACSS1):c.2014G>A (p.Ala672Thr)	ACSS1 (A670T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601840	NM_032501.4(ACSS1):c.2006G>C (p.Ser669Thr)	ACSS1 (S548T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367754	NM_032501.4(ACSS1):c.2002C>T (p.Pro668Ser)	ACSS1 (P547S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214796	NM_032501.4(ACSS1):c.1985C>T (p.Thr662Ile)	ACSS1 (T541I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140874	NM_032501.4(ACSS1):c.1961G>T (p.Ser654Ile)	ACSS1 (S533I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140872	NM_032501.4(ACSS1):c.1838A>G (p.Lys613Arg)	ACSS1 (K492R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600364	NM_032501.4(ACSS1):c.1805C>T (p.Ala602Val)	ACSS1 (A481V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370505	NM_032501.4(ACSS1):c.1790T>G (p.Val597Gly)	ACSS1 (V595G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140863	NM_032501.4(ACSS1):c.1770A>T (p.Glu590Asp)	ACSS1 (E469D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263356	NM_032501.4(ACSS1):c.1738G>A (p.Val580Ile)	ACSS1 (V459I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260647	NM_032501.4(ACSS1):c.1675C>T (p.Arg559Trp)	ACSS1 (R438W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140858	NM_032501.4(ACSS1):c.1595G>A (p.Gly532Glu)	ACSS1 (G530E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140855	NM_032501.4(ACSS1):c.1556A>G (p.Asp519Gly)	ACSS1 (D519G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294923	NM_032501.4(ACSS1):c.1547G>T (p.Arg516Leu)	ACSS1 (R514L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459106	NM_032501.4(ACSS1):c.1477G>A (p.Val493Ile)	ACSS1 (V491I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258805	NM_032501.4(ACSS1):c.1435G>A (p.Val479Ile)	ACSS1 (V358I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3140845	NM_032501.4(ACSS1):c.1360G>A (p.Ala454Thr)	ACSS1 (A454T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263392	NM_032501.4(ACSS1):c.1222T>A (p.Ser408Thr)	ACSS1 (S408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560811	NM_032501.4(ACSS1):c.1213T>C (p.Tyr405His)	ACSS1 (Y284H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652247	NM_032501.4(ACSS1):c.1209G>A (p.Lys403=)	ACSS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3140835	NM_032501.4(ACSS1):c.1175G>A (p.Arg392Gln)	ACSS1 (R271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263346	NM_032501.4(ACSS1):c.1051C>T (p.Leu351Phe)	ACSS1 (L351F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480505	NM_032501.4(ACSS1):c.1046G>C (p.Gly349Ala)	ACSS1 (G228A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393583	NM_032501.4(ACSS1):c.946G>A (p.Ala316Thr)	ACSS1 (A316T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140905	NM_032501.4(ACSS1):c.835G>A (p.Ala279Thr)	ACSS1 (A158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285074	NM_032501.4(ACSS1):c.797C>T (p.Pro266Leu)	ACSS1 (P145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285828	NM_032501.4(ACSS1):c.733G>A (p.Val245Met)	ACSS1 (V245M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223258	NM_032501.4(ACSS1):c.661C>G (p.Gln221Glu)	ACSS1 (Q221E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140893	NM_032501.4(ACSS1):c.580G>A (p.Val194Ile)	ACSS1 (V194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393344	NM_032501.4(ACSS1):c.520G>A (p.Val174Met)	ACSS1 (V174M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263412	NM_032501.4(ACSS1):c.490C>T (p.Arg164Cys)	ACSS1 (R164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263362	NM_032501.4(ACSS1):c.481G>A (p.Gly161Arg)	ACSS1 (G161R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623751	NM_032501.4(ACSS1):c.434A>G (p.Glu145Gly)	ACSS1 (E145G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2652248	NM_032501.4(ACSS1):c.432-1425C>T	ACSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2509771	NM_032501.4(ACSS1):c.394C>T (p.Arg132Cys)	ACSS1 (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396087	NM_032501.4(ACSS1):c.376G>A (p.Val126Ile)	ACSS1 (V126I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263401	NM_032501.4(ACSS1):c.199C>T (p.Arg67Trp)	ACSS1 (R67W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140842	NM_032501.4(ACSS1):c.132C>A (p.Ser44Arg)	ACSS1 (S44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140916	NM_032501.4(ACSS1):c.96C>A (p.Ser32Arg)	ACSS1 (S32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140909	NM_032501.4(ACSS1):c.88G>C (p.Gly30Arg)	ACSS1 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263370	NM_032501.4(ACSS1):c.80C>T (p.Pro27Leu)	ACSS1 (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 979559	GRCh37/hg19 20p11.21(chr20:24989180-25156722)x1	VSX1, ACSS1	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394073	GRCh37/hg19 20p11.21(chr20:24930152-25195470)x3	ACSS1, APMAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 64