ACAT2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 750410	NM_005891.3(ACAT2):c.56-189G>A	ACAT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3261207	NM_005891.3(ACAT2):c.344T>A (p.Val115Asp)	ACAT2 (V115D +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 3261208	NM_005891.3(ACAT2):c.420G>A (p.Met140Ile)	ACAT2 (M169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719956	NM_005891.3(ACAT2):c.453T>G (p.Leu151=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723705	NM_005891.3(ACAT2):c.471C>T (p.Asn157=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2637843	NM_005891.3(ACAT2):c.490+12A>G	ACAT2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 548471	NM_005891.3(ACAT2):c.526G>A (p.Glu176Lys)	ACAT2 (E176K +1 more)	Single nucleotide variant (missense variant)	Acetyl-CoA acetyltransferase-2 deficiency	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 781017	NM_005891.3(ACAT2):c.585T>G (p.Ala195=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748067	NM_005891.3(ACAT2):c.642T>C (p.Ile214=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 778350	NM_005891.3(ACAT2):c.851C>G (p.Ser284Cys)	ACAT2 (S284C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 726396	NM_005891.3(ACAT2):c.1024-5G>A	ACAT2, TCP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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
Select item 3325041	NM_030752.3(TCP1):c.1639G>A (p.Asp547Asn)	ACAT2, TCP1 (D392N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 979580	GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3	PNLDC1, ACAT2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 686074	GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1	ACAT2, MRPL18 +4 more	Copy number loss	not provided	GUncertain significance
Select item 684944	GRCh37/hg19 6q25.3(chr6:160043162-160195268)x1	ACAT2, SOD2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 666538	NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del	ACAT1, ACAT2	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic

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Items: 61