ClinVar for Gene (Select 39) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3818507	NM_005891.3(ACAT2):c.100G>C (p.Gly34Arg)	ACAT2 (G34R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3818415	NM_005891.3(ACAT2):c.1174A>T (p.Met392Leu)	ACAT2, TCP1 (M421L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3818325	NM_005891.3(ACAT2):c.497A>T (p.Asn166Ile)	ACAT2 (N166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3818239	NM_005891.3(ACAT2):c.670C>T (p.His224Tyr)	ACAT2 (H224Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3818147	NM_005891.3(ACAT2):c.496A>C (p.Asn166His)	ACAT2 (N195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3818059	NM_005891.3(ACAT2):c.1129C>T (p.Arg377Cys)	ACAT2, TCP1 (R377C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3817959	NM_005891.3(ACAT2):c.250C>T (p.Pro84Ser)	ACAT2 (P113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3805205	NM_030752.3(TCP1):c.1645G>A (p.Val549Ile)	ACAT2, TCP1 (V394I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3474274	NM_005891.3(ACAT2):c.1096C>G (p.Leu366Val)	ACAT2, TCP1 (L366V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3474174	NM_005891.3(ACAT2):c.85C>G (p.Pro29Ala)	ACAT2 (P29A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3474069	NM_005891.3(ACAT2):c.149A>C (p.Glu50Ala)	ACAT2 (E50A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391893	GRCh37/hg19 6q25.3-27(chr6:158471960-170919482)x1	ACAT2, AFDN +61 more	Copy number loss	not provided	GPathogenic
Select item 3391892	GRCh37/hg19 6q25.2-27(chr6:153777725-170919482)x1	ACAT2, AFDN +73 more	Copy number loss	not provided	GPathogenic
Select item 3391846	GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3	ZC3H12D, ZDHHC14 +117 more	Copy number gain	not provided	GPathogenic
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 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 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 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	RSPH3, SDIM1 +54 more	Copy number gain	not provided	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 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 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 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 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 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 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	PACRG, PLG +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 781017	NM_005891.3(ACAT2):c.585T>G (p.Ala195=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 750410	NM_005891.3(ACAT2):c.56-189G>A	ACAT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748067	NM_005891.3(ACAT2):c.642T>C (p.Ile214=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 723705	NM_005891.3(ACAT2):c.471C>T (p.Asn157=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719956	NM_005891.3(ACAT2):c.453T>G (p.Leu151=)	ACAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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	SOD2, WTAP +1 more	Copy number loss	not provided	GUncertain significance
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
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	TCP1, THBS2 +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	ACAT2, AFDN +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
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 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TBC1D22B, TBC1D32 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	AARS2, ABCC10 +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 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	ABRACL, ACAT2 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +564 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC121132714, LOC121740671 +270 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997686, LOC129997687 +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 75