"Baylor Genetics"[submitter] AND "ACAT1"[gene] - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1416775	NM_000019.4(ACAT1):c.30del (p.Ser10fs)	ACAT1 (S10fs)	Deletion (frameshift variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 633029	NM_000019.4(ACAT1):c.52dup (p.Leu18fs)	ACAT1 (L18fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 842676	NM_000019.4(ACAT1):c.64_72+10del	ACAT1	Deletion (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680313	NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)	ACAT1 (Q24*)	Single nucleotide variant (nonsense +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666463	NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	ACAT1 (Y28fs)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1509341	NM_000019.4(ACAT1):c.120+1G>C	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 1457479	NM_000019.4(ACAT1):c.134dup (p.Ser46fs)	ACAT1 (S46fs)	Duplication (frameshift variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680323	NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)	ACAT1 (L62fs)	Indel (5 prime UTR variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666469	NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)	ACAT1 (Q73P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 3240954	NM_000019.4(ACAT1):c.238+1G>A	ACAT1	Single nucleotide variant (splice donor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2680307	NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)	ACAT1 (I81fs)	Insertion (5 prime UTR variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666470	NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)	ACAT1 (E85del)	Microsatellite (inframe_deletion +3 more)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 3240956	NM_000019.4(ACAT1):c.363_364insT (p.Ile122fs)	ACAT1 (I122fs +2 more)	Insertion (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 1805706	NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)	ACAT1 (N123fs +2 more)	Deletion (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1397530	NM_000019.4(ACAT1):c.378_379del (p.Ala127fs)	ACAT1 (A37fs +2 more)	Microsatellite (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666478	NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	ACAT1 (C126S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 666479	NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	ACAT1 (A127V)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680287	NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)	ACAT1 (L140R +2 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666482	NM_000019.4(ACAT1):c.431A>C (p.His144Pro)	ACAT1 (H144P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 666483	NM_000019.4(ACAT1):c.435+1G>A	ACAT1	Single nucleotide variant (splice donor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 166649	NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	ACAT1 (M148fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198029	NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	ACAT1 (G152A)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 92297	NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	ACAT1 (N158D)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 198030	NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1 (N158S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 1456767	NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)	ACAT1 (N74fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 1358108	NM_000019.4(ACAT1):c.537del (p.Ile179fs)	ACAT1 (I179fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2833	NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	ACAT1 (G183R)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 1074319	NM_000019.4(ACAT1):c.571del (p.Ile191fs)	ACAT1 (I101fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680319	NM_000019.4(ACAT1):c.580-2A>G	ACAT1	Single nucleotide variant (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2680315	NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)	ACAT1 (N100fs +3 more)	Microsatellite (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 376832	NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	ACAT1 (R208*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2680324	NM_000019.4(ACAT1):c.626dup (p.Asn209fs)	ACAT1 (N104fs +3 more)	Duplication (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 198381	NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	ACAT1 (R208Q)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680325	NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)	ACAT1 (N112fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666492	NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)	ACAT1 (Y219H)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2680308	NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)	ACAT1 (T134fs +3 more)	Microsatellite (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680304	NM_000019.4(ACAT1):c.720dup (p.Thr241fs)	ACAT1 (T136fs +3 more)	Duplication (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2418979	NM_000019.4(ACAT1):c.721dup (p.Thr241fs)	ACAT1 (T136fs +3 more)	Duplication (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 92298	NM_000019.4(ACAT1):c.730+2T>C	ACAT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240951	NM_000019.4(ACAT1):c.731-1G>A	ACAT1	Single nucleotide variant (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 1459493	NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)	ACAT1 (Q146* +3 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 1069705	NM_000019.4(ACAT1):c.749del (p.Val250fs)	ACAT1 (V145fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666499	NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del)	ACAT1 (E252del +3 more)	Microsatellite (inframe_deletion +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 198684	NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	ACAT1 (E255D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1896672	NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)	ACAT1 (T164fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2680299	NM_000019.4(ACAT1):c.814del (p.Gln272fs)	ACAT1 (Q167fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2840	NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)	ACAT1 (Q272*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic
Select item 1408987	NM_000019.4(ACAT1):c.824del (p.Asn275fs)	ACAT1 (N170fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 166650	NM_000019.4(ACAT1):c.826+1G>T	ACAT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666505	NM_000019.4(ACAT1):c.826+5_826+9del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 279672	NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	ACAT1 (T297M)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 666511	NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)	ACAT1 (A301P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 92299	NM_000019.4(ACAT1):c.905del (p.Lys302fs)	ACAT1 (K302fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2844	NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	ACAT1 (I312T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666515	NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)	ACAT1 (D317N)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666516	NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	ACAT1	Single nucleotide variant (synonymous variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666517	NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)	ACAT1 (I323T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2845	NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	ACAT1 (A333P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680318	NM_000019.4(ACAT1):c.1005+2T>G	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2835	NM_000019.4(ACAT1):c.1006-2A>C	ACAT1	Single nucleotide variant (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic
Select item 429749	NM_000019.4(ACAT1):c.1006-1G>C	ACAT1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2841	NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	ACAT1 (E345del +3 more)	Microsatellite (inframe_deletion +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 524080	NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)	ACAT1 (E345fs)	Deletion (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic
Select item 858337	NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	ACAT1 (W350*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680330	NM_000019.4(ACAT1):c.1097dup (p.Met366fs)	ACAT1 (M261fs +3 more)	Duplication (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 1439830	NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)	ACAT1 (Q267* +3 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666528	NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	ACAT1 (N375S)	Single nucleotide variant (missense variant)	ACAT1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 429773	NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	ACAT1 (I387T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072442	NM_000019.4(ACAT1):c.1163+1G>A	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666531	NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	ACAT1 (M389I)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 666533	NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	ACAT1 (H397D)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71