ACSS2[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 150003	GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3	ACSS2, GGT7 +10 more	Copy number gain	See cases	GLikely benign
Select item 3140999	NM_018677.4(ACSS2):c.30C>G (p.Ser10Arg)	ACSS2, LOC130065739 (S10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568214	NM_018677.4(ACSS2):c.80G>C (p.Arg27Pro)	ACSS2, LOC130065739 (R27P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341774	NM_018677.4(ACSS2):c.81G>A (p.Arg27=)	ACSS2, LOC130065739	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2362316	NM_018677.4(ACSS2):c.86G>C (p.Trp29Ser)	ACSS2, LOC130065739 (W29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140927	NM_018677.4(ACSS2):c.121G>A (p.Val41Ile)	ACSS2, LOC130065739 (V41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781546	NM_018677.4(ACSS2):c.124C>A (p.Pro42Thr)	ACSS2, LOC130065739 (P42T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3140943	NM_018677.4(ACSS2):c.134A>G (p.Gln45Arg)	ACSS2, LOC130065739 (Q45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410509	NM_018677.4(ACSS2):c.155G>C (p.Arg52Pro)	ACSS2, LOC130065739 (R52P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263443	NM_018677.4(ACSS2):c.163G>C (p.Val55Leu)	ACSS2, LOC130065739 (V55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372022	NM_018677.4(ACSS2):c.241C>T (p.Arg81Trp)	ACSS2 (R81W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399709	NM_018677.4(ACSS2):c.242G>A (p.Arg81Gln)	ACSS2 (R81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140993	NM_018677.4(ACSS2):c.245A>T (p.Tyr82Phe)	ACSS2 (Y82F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140997	NM_018677.4(ACSS2):c.280G>A (p.Glu94Lys)	ACSS2 (E94K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3357577	NM_018677.4(ACSS2):c.319G>C (p.Val107Leu)	ACSS2 (V107L +1 more)	Single nucleotide variant (missense variant)	ACSS2-related disorder	GLikely benign
Select item 3049519	NM_018677.4(ACSS2):c.411A>G (p.Thr137=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2333396	NM_018677.4(ACSS2):c.445A>G (p.Ser149Gly)	ACSS2 (S54G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355389	NM_018677.4(ACSS2):c.458G>A (p.Arg153Gln)	ACSS2 (R153Q +1 more)	Single nucleotide variant (missense variant)	ACSS2-related disorder	GUncertain significance
Select item 2399059	NM_018677.4(ACSS2):c.501G>A (p.Met167Ile)	ACSS2 (M167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141008	NM_018677.4(ACSS2):c.542C>T (p.Ala181Val)	ACSS2 (A181V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463780	NM_018677.4(ACSS2):c.598T>C (p.Cys200Arg)	ACSS2 (C200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366479	NM_018677.4(ACSS2):c.691G>C (p.Asp231His)	ACSS2 (D136H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043533	NM_018677.4(ACSS2):c.756C>T (p.His252=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GBenign
Select item 3141021	NM_018677.4(ACSS2):c.764G>A (p.Arg255Gln)	ACSS2 (R255Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331113	NM_018677.4(ACSS2):c.805C>A (p.Pro269Thr)	ACSS2 (P269T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594712	NM_018677.4(ACSS2):c.808A>G (p.Ile270Val)	ACSS2 (I175V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311938	NM_018677.4(ACSS2):c.834+791A>T	ACSS2 (K282I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780604	NM_018677.4(ACSS2):c.898T>A (p.Cys300Ser)	ACSS2 (C205S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3039685	NM_018677.4(ACSS2):c.921C>T (p.Ala307=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2204557	NM_018677.4(ACSS2):c.922G>A (p.Glu308Lys)	ACSS2 (E213K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055005	NM_018677.4(ACSS2):c.927C>T (p.Asp309=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2038439	NM_018677.4(ACSS2):c.972+5GT[23]	ACSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 2019383	NM_018677.4(ACSS2):c.972+5GT[24]	ACSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 3045466	NM_018677.4(ACSS2):c.989T>C (p.Val330Ala)	ACSS2 (V235A +2 more)	Single nucleotide variant (missense variant)	ACSS2-related disorder	GBenign
Select item 3043271	NM_018677.4(ACSS2):c.1026G>A (p.Lys342=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 3140918	NM_018677.4(ACSS2):c.1088C>T (p.Thr363Ile)	ACSS2 (T376I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140925	NM_018677.4(ACSS2):c.1102G>A (p.Val368Ile)	ACSS2 (V381I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333905	NM_018677.4(ACSS2):c.1222A>G (p.Thr408Ala)	ACSS2, LOC126863018 (T421A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140933	NM_018677.4(ACSS2):c.1241G>A (p.Arg414His)	ACSS2, LOC126863018 (R414H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610372	NM_018677.4(ACSS2):c.1262A>T (p.Asp421Val)	ACSS2, LOC126863018 (D326V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316179	NM_018677.4(ACSS2):c.1286G>A (p.Arg429Gln)	ACSS2, LOC126863018 (R429Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263453	NM_018677.4(ACSS2):c.1288G>T (p.Ala430Ser)	ACSS2, LOC126863018 (A443S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738688	NM_018677.4(ACSS2):c.1359G>C (p.Val453=)	ACSS2, LOC126863018	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140948	NM_018677.4(ACSS2):c.1366G>T (p.Ala456Ser)	ACSS2, LOC126863018 (A469S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140953	NM_018677.4(ACSS2):c.1430C>G (p.Pro477Arg)	ACSS2, LOC126863018 (P490R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363608	NM_018677.4(ACSS2):c.1441G>A (p.Ala481Thr)	ACSS2, LOC126863018 (A386T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605237	NM_018677.4(ACSS2):c.1448C>A (p.Pro483His)	ACSS2, LOC126863018 (P388H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053292	NM_018677.4(ACSS2):c.1458C>T (p.Pro486=)	ACSS2, LOC126863018	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 2600109	NM_018677.4(ACSS2):c.1459G>A (p.Gly487Ser)	ACSS2, LOC126863018 (G392S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 617833	NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala)	ACSS2, LOC126863018 (V496A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480044	NM_018677.4(ACSS2):c.1505A>G (p.Asn502Ser)	ACSS2, LOC126863018 (N502S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614745	NM_018677.4(ACSS2):c.1519G>A (p.Glu507Lys)	ACSS2, LOC126863018 (E412K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346357	NM_018677.4(ACSS2):c.1534G>A (p.Ala512Thr)	ACSS2, LOC126863018 (A512T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140971	NM_018677.4(ACSS2):c.1658G>C (p.Gly553Ala)	ACSS2 (G458A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263435	NM_018677.4(ACSS2):c.1666C>T (p.Arg556Trp)	ACSS2 (R461W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263424	NM_018677.4(ACSS2):c.1694C>T (p.Thr565Ile)	ACSS2 (T565I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738865	NM_018677.4(ACSS2):c.1758A>G (p.Ser586=)	ACSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3140972	NM_018677.4(ACSS2):c.1774G>A (p.Glu592Lys)	ACSS2 (E605K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473138	NM_018677.4(ACSS2):c.1822G>A (p.Gly608Ser)	ACSS2 (G608S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623897	NM_018677.4(ACSS2):c.1858G>A (p.Gly620Ser)	ACSS2 (G633S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042629	NM_018677.4(ACSS2):c.1884C>T (p.Thr628=)	ACSS2	Single nucleotide variant (synonymous variant)	ACSS2-related disorder	GLikely benign
Select item 3140982	NM_018677.4(ACSS2):c.1925T>C (p.Ile642Thr)	ACSS2 (I655T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140986	NM_018677.4(ACSS2):c.2081G>A (p.Ser694Asn)	ACSS2 (S599N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358459	NM_018677.4(ACSS2):c.2087G>A (p.Arg696His)	ACSS2 (R601H +2 more)	Single nucleotide variant (missense variant)	ACSS2-related disorder	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
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 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	ACSS2, ACTL10 +25 more	Deletion	Long QT syndrome	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

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Items: 78