Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)	SNV Germline	Chr11:108146334	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter	CA252461	rs_120074140	2 SubmittersRCV000002966
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	SNV Germline	Chr11:108139009	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA252462	rs_120074141	6 SubmittersRCV000002967
NM_000019.4(ACAT1):c.1006-2A>C	SNV Germline	Chr11:108146200	Pathogenic	Deficiency of acetyl-CoA acetyltransferase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6263354	rs_145229472	7 SubmittersRCV000002969 RCV003329225
NM_000019.4(ACAT1):c.1163+2T>C	SNV Germline	Chr11:108146361	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter	CA382508684	rs_1280110907	2 SubmittersRCV000002971
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)	SNV Germline	Chr11:108121608	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter	CA252463	rs_120074142	2 SubmittersRCV000002972
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)	SNV Germline	Chr11:108146332	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA252465	rs_120074143	3 SubmittersRCV000002973
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)	SNV Germline	Chr11:108141688	Pathogenic	Deficiency of acetyl-CoA acetyltransferase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220228	rs_120074144	9 SubmittersRCV000002974 RCV000077933
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)	SNV Germline	Chr11:108134260	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter	CA252469	rs_120074145	2 SubmittersRCV000002977
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	SNV Germline	Chr11:108142545	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA252470	rs_120074146	6 SubmittersRCV000002978
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	SNV Germline	Chr11:108144039	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA252471	rs_120074147	6 SubmittersRCV000002979
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)	SNV Germline	Chr11:108135240	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase not specified	Criteria Provided Conflicting Classifications	CA252472	rs_120074148	4 SubmittersRCV000002980 RCV003323348
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	SNV Germline	Chr11:108138934	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase ACAT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220226	rs_148639841	10 SubmittersRCV000077931 RCV000179235 RCV003915046
NM_000019.4(ACAT1):c.730+2T>C	SNV Germline	Chr11:108140217	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA220227	rs_398123096	6 SubmittersRCV000179697 RCV001193469
NM_000019.4(ACAT1):c.826+1G>T	SNV Germline	Chr11:108141701	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA233439	rs_727503796	7 SubmittersRCV000180090 RCV000790759
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	SNV Germline	Chr11:108121666	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of acetyl-CoA acetyltransferase ACAT1-related disorder	Criteria Provided Conflicting Classifications	CA238541	rs_77311724	4 SubmittersRCV000173048 RCV001086332 RCV003927577
NM_000019.4(ACAT1):c.941-14C>T	SNV Germline	Chr11:108143969	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications	CA239079	rs_12801620	3 SubmittersRCV000173616 RCV001106416
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	SNV Germline	Chr11:108138917	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA275331	rs_762991875	6 SubmittersRCV000179236 RCV000779680
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	SNV Germline	Chr11:108138935	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA275332	rs_199524907	10 SubmittersRCV000179237 RCV000723373 RCV004020139
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	SNV Germline	Chr11:108140108	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA275375	rs_370720208	4 SubmittersRCV000179698 RCV000844797
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	SNV Germline	Chr11:108141639	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of acetyl-CoA acetyltransferase not specified	Criteria Provided Conflicting Classifications	CA275415	rs_794727893	4 SubmittersRCV000180091 RCV000844809 RCV003230437
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)	SNV Germline	Chr11:108140138	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA10586129	rs_879255505	3 SubmittersRCV000239383
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	SNV Germline	Chr11:108142500	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase ACAT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603085	rs_886041122	8 SubmittersRCV000318454 RCV000844818 RCV003417871
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)	SNV Germline	Chr11:108147359	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications	CA10603786	rs_886042080	3 SubmittersRCV000370142 RCV000811411
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)	SNV Germline	Chr11:108121621	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications	CA10637477	rs_886047594	2 SubmittersRCV000305898
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)	SNV Germline	Chr11:108138994	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications	CA6263152	rs_370063325	2 SubmittersRCV000269072
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)	SNV Germline	Chr11:108144021	Conflicting classifications of pathogenicity	Condition: not provided Deficiency of acetyl-CoA acetyltransferase Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6263324	rs_150038447	5 SubmittersRCV001785553 RCV000387013 RCV003165821
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)	SNV Germline	Chr11:108147335	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications	CA6263411	rs_767412638	4 SubmittersRCV000341325
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	SNV Germline	Chr11:108140107	Pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA6263171	rs_532190594	7 SubmittersRCV000434420 RCV000689417
NM_000019.4(ACAT1):c.1006-1G>C	SNV Germline	Chr11:108146201	Pathogenic	Deficiency of acetyl-CoA acetyltransferase Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382508322	rs_1131691567	6 SubmittersRCV000002970 RCV000493713
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	SNV Germline	Chr11:108146356	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts	CA6263371	rs_748303093	6 SubmittersRCV000493456 RCV000662283
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)	SNV Germline	Chr11:108134256	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591362402	1 SubmittersRCV000799776
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)	SNV Germline	Chr11:108121607	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1305448140	3 SubmittersRCV000844765
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:108121608	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_120074142	2 SubmittersRCV000844766
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)	SNV Germline	Chr11:108131913	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591360326	1 SubmittersRCV000844767
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)	SNV Germline	Chr11:108131933	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1469248513	1 SubmittersRCV000844770
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)	SNV Germline	Chr11:108133917	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_779758622	4 SubmittersRCV000844774
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)	SNV Germline	Chr11:108134268	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1233969418	3 SubmittersRCV000844776
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)	SNV Germline	Chr11:108135177	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591363715	1 SubmittersRCV000844781
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)	SNV Germline	Chr11:108135178	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1037467160	1 SubmittersRCV000844782
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	SNV Germline	Chr11:108135184	Pathogenic/Likely pathogenic	Condition: not provided Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1278227329	5 SubmittersRCV003442119 RCV000844783
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	SNV Germline	Chr11:108135187	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1591363760	3 SubmittersRCV000844784
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)	SNV Germline	Chr11:108135202	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591363786	1 SubmittersRCV000844785
NM_000019.4(ACAT1):c.431A>C (p.His144Pro)	SNV Germline	Chr11:108135238	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1025180934	2 SubmittersRCV000844787
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)	SNV Germline	Chr11:108139018	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591367592	1 SubmittersRCV000844793
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)	SNV Germline	Chr11:108139040	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_541517496	3 SubmittersRCV000844794
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	SNV Germline	Chr11:108139040	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_541517496	5 SubmittersRCV000844795
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)	SNV Germline	Chr11:108140140	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1437567292	3 SubmittersRCV000844798
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)	SNV Germline	Chr11:108140159	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1385465985	1 SubmittersRCV000844801
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)	SNV Germline	Chr11:108141633	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_983216159	1 SubmittersRCV000844806
NM_000019.4(ACAT1):c.844A>C (p.Asn282His)	SNV Germline	Chr11:108142454	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_750195919	1 SubmittersRCV000844814
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)	SNV Germline	Chr11:108142500	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_886041122	2 SubmittersRCV000844817
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)	SNV Germline	Chr11:108142511	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1420321267	3 SubmittersRCV000844819
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)	SNV Germline	Chr11:108143991	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_780486838	3 SubmittersRCV000844823
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	SNV Germline	Chr11:108143993	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_747714452	3 SubmittersRCV000844824
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)	SNV Germline	Chr11:108144010	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase not specified	Criteria Provided Conflicting Classifications		rs_755806238	3 SubmittersRCV000844825 RCV002307633
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)	SNV Germline	Chr11:108146236	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1338023969	2 SubmittersRCV000844833
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)	SNV Germline	Chr11:108146255	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1591374629	2 SubmittersRCV000844834
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)	SNV Germline	Chr11:108146255	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591374629	1 SubmittersRCV000844835
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)	SNV Germline	Chr11:108146257	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591374632	1 SubmittersRCV000844836
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	SNV Germline	Chr11:108146320	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase ACAT1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_373771053	7 SubmittersRCV000844837 RCV003396461
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)	SNV Germline	Chr11:108146359	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_773491386	1 SubmittersRCV000844838
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	SNV Germline	Chr11:108147273	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_377295639	3 SubmittersRCV000844840
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)	SNV Germline	Chr11:108147274	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1184088336	1 SubmittersRCV000844841
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	SNV Germline	Chr11:108147295	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_746332363	3 SubmittersRCV000844842
NM_000019.4(ACAT1):c.121-13T>A	SNV Germline	Chr11:108133807	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591361903	1 SubmittersRCV000844772
NM_000019.4(ACAT1):c.121-3C>G	SNV Germline	Chr11:108133817	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_1591361919	2 SubmittersRCV000844771
NM_000019.4(ACAT1):c.334+1G>A	SNV Germline	Chr11:108134317	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591362533	1 SubmittersRCV000844779
NM_000019.4(ACAT1):c.435+1G>A	SNV Germline	Chr11:108135243	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1591363834	3 SubmittersRCV000844788
NM_000019.4(ACAT1):c.730+1G>A	SNV Germline	Chr11:108140216	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591368919	1 SubmittersRCV000844802
NM_000019.4(ACAT1):c.826+5G>T	SNV Germline	Chr11:108141705	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1591370366	1 SubmittersRCV000844811
NM_000019.4(ACAT1):c.940+1G>T	SNV Germline	Chr11:108142551	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1591371185	2 SubmittersRCV000844820
NM_000019.4(ACAT1):c.941-9T>A	SNV Germline	Chr11:108143974	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_980651269	1 SubmittersRCV000844821
NM_000019.4(ACAT1):c.1006-1G>A	SNV Germline	Chr11:108146201	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1131691567	2 SubmittersRCV000844828
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)	SNV Germline	Chr11:108141646	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase Condition: not provided	Criteria Provided Conflicting Classifications		rs_753816946	4 SubmittersRCV000910746 RCV003392689
NM_000019.4(ACAT1):c.239-8T>A	SNV Germline	Chr11:108134213	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_202030208	2 SubmittersRCV000907288
NM_000019.4(ACAT1):c.436-4G>C	SNV Germline	Chr11:108138894	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_3741050	3 SubmittersRCV000948317
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)	SNV Germline	Chr11:108140127	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_761282960	1 SubmittersRCV001071621
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	SNV Germline	Chr11:108146245	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1367121673	2 SubmittersRCV001064187
NM_000019.4(ACAT1):c.940+2T>C	SNV Germline	Chr11:108142552	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_963023006	1 SubmittersRCV001042879
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)	SNV Germline	Chr11:108135185	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_536301499	2 SubmittersRCV001103374
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)	SNV Germline	Chr11:108142468	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_143892373	3 SubmittersRCV001105289
NM_000019.4(ACAT1):c.1191T>C (p.His397=)	SNV Germline	Chr11:108147297	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_1439617035	2 SubmittersRCV001108623
NM_000019.4(ACAT1):c.941-13T>C	SNV Germline	Chr11:108143970	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_760991373	2 SubmittersRCV001106417
NM_000019.4(ACAT1):c.826+2T>G	SNV Unknown	Chr11:108141702	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2077590197	1 SubmittersRCV001196560
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)	SNV Germline	Chr11:108146224	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149171104	3 SubmittersRCV001247395 RCV002568679
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)	SNV Germline	Chr11:108147296	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2134797745	1 SubmittersRCV001378187
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)	SNV Germline	Chr11:108146296	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2134791556	1 SubmittersRCV001390020
NM_000019.4(ACAT1):c.1163+1G>A	SNV Germline	Chr11:108146360	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_1423476705	2 SubmittersRCV001385168
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)	SNV Germline	Chr11:108138964	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_577313004	3 SubmittersRCV001410479 RCV004038066
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)	SNV Germline	Chr11:108133837	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Conflicting Classifications		rs_763375578	2 SubmittersRCV001472639
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)	SNV Germline	Chr11:108133830	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2135334430	1 SubmittersRCV001647335
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala)	SNV Germline	Chr11:108134245	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_1565288701	1 SubmittersRCV001647336
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)	SNV Germline	Chr11:108146313	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_2134791703	2 SubmittersRCV001647338
NM_000019.4(ACAT1):c.238+2T>A	SNV Germline	Chr11:108133939	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_2135334862	2 SubmittersRCV001805743
NM_000019.4(ACAT1):c.731-2A>G	SNV Germline	Chr11:108141603	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_752216720	1 SubmittersRCV001806313
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)	SNV Germline	Chr11:108146310	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_2134791667	2 SubmittersRCV001936720
NM_000019.4(ACAT1):c.579+2T>A	SNV Germline	Chr11:108139043	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_112950994	1 SubmittersRCV001991912
NM_000019.4(ACAT1):c.120+1G>C	SNV Germline	Chr11:108131955	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_779908220	2 SubmittersRCV002017830
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)	SNV Germline	Chr11:108141637	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2134768688	1 SubmittersRCV001939398
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)	SNV Germline	Chr11:108141661	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2134768866	1 SubmittersRCV001960646
NM_000019.4(ACAT1):c.826+2T>C	SNV Germline	Chr11:108141702	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2077590197	1 SubmittersRCV002014601
NM_000019.4(ACAT1):c.121-2A>G	SNV Germline	Chr11:108133818	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2135334384	1 SubmittersRCV002025782
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)	SNV Germline	Chr11:108147295	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_746332363	1 SubmittersRCV001931272
NM_000019.4(ACAT1):c.1005+1G>A	SNV Germline	Chr11:108144048	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2134780623	1 SubmittersRCV002030148
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)	SNV Germline	Chr11:108134298	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_2135336400	1 SubmittersRCV001900561
NM_000019.4(ACAT1):c.120+1G>T	SNV Germline	Chr11:108131955	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_779908220	1 SubmittersRCV001998899
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)	SNV Germline	Chr11:108141607	Pathogenic/Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Multiple Submitters No Conflicts		rs_2134768525	2 SubmittersRCV001959024
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)	SNV Germline	Chr11:108147273	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_377295639	1 SubmittersRCV001963701
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln)	SNV Germline	Chr11:108140092	Conflicting classifications of pathogenicity	Deficiency of acetyl-CoA acetyltransferase Condition: not provided	Criteria Provided Conflicting Classifications		rs_200498630	2 SubmittersRCV002145989 RCV003222396
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)	SNV Germline	Chr11:108134235	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter		rs_748425041	1 SubmittersRCV002238660
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)	SNV Germline	Chr11:108135240	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV002283674
NM_000019.4(ACAT1):c.335-2A>G	SNV Germline	Chr11:108135140	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV002833996
NM_000019.4(ACAT1):c.73-1G>A	SNV Germline	Chr11:108131906	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV002848197
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)	SNV Germline	Chr11:108134283	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003044420
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)	SNV Germline	Chr11:108131938	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003039225
NM_000019.4(ACAT1):c.238+2T>C	SNV Germline	Chr11:108133939	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003226625
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)	SNV Unknown	Chr11:108135226	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003474425
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)	SNV Unknown	Chr11:108121676	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003460285
NM_000019.4(ACAT1):c.1005+2T>G	SNV Unknown	Chr11:108144049	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003460290
NM_000019.4(ACAT1):c.580-2A>G	SNV Unknown	Chr11:108140063	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003460291
NM_000019.4(ACAT1):c.120+1G>A	SNV Germline	Chr11:108131955	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003501161
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr11:108147316	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003500033
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)	SNV Germline	Chr11:108140113	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003606208
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)	SNV Germline	Chr11:108133916	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003606430
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:108121607	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003605530
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)	SNV Germline	Chr11:108133862	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003606633
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)	SNV Germline	Chr11:108146355	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003810932
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)	SNV Germline	Chr11:108138945	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003839079
NM_000019.4(ACAT1):c.334+2T>A	SNV Germline	Chr11:108134318	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV003839361
NM_000019.4(ACAT1):c.1163G>C (p.Gly388Ala)	SNV Germline	Chr11:108146359	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV004566519
NM_000019.4(ACAT1):c.731-1G>A	SNV Unknown	Chr11:108141604	Likely pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV004575437
NM_000019.4(ACAT1):c.238+1G>A	SNV Unknown	Chr11:108133938	Pathogenic	Deficiency of acetyl-CoA acetyltransferase	Criteria Provided Single Submitter			1 SubmittersRCV004575440

NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)

SNV
Germline

Chr11:108146334

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

CA252461

rs_120074140

2 SubmittersRCV000002966

NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)

SNV
Germline

Chr11:108139009

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA252462

rs_120074141

6 SubmittersRCV000002967

NM_000019.4(ACAT1):c.1006-2A>C

SNV
Germline

Chr11:108146200

Pathogenic

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6263354

rs_145229472

7 SubmittersRCV000002969 RCV003329225

NM_000019.4(ACAT1):c.1163+2T>C

SNV
Germline

Chr11:108146361

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

CA382508684

rs_1280110907

2 SubmittersRCV000002971

NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr11:108121608

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

CA252463

rs_120074142

2 SubmittersRCV000002972

NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)

SNV
Germline

Chr11:108146332

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA252465

rs_120074143

3 SubmittersRCV000002973

NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)

SNV
Germline

Chr11:108141688

Pathogenic

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220228

rs_120074144

9 SubmittersRCV000002974 RCV000077933

NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)

SNV
Germline

Chr11:108134260

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

CA252469

rs_120074145

2 SubmittersRCV000002977

NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)

SNV
Germline

Chr11:108142545

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA252470

rs_120074146

6 SubmittersRCV000002978

NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)

SNV
Germline

Chr11:108144039

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA252471

rs_120074147

6 SubmittersRCV000002979

NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)

SNV
Germline

Chr11:108135240

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase
not specified

Criteria Provided
Conflicting Classifications

CA252472

rs_120074148

4 SubmittersRCV000002980 RCV003323348

NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)

SNV
Germline

Chr11:108138934

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase
ACAT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220226

rs_148639841

10 SubmittersRCV000077931 RCV000179235 RCV003915046

NM_000019.4(ACAT1):c.730+2T>C

SNV
Germline

Chr11:108140217

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA220227

rs_398123096

6 SubmittersRCV000179697 RCV001193469

NM_000019.4(ACAT1):c.826+1G>T

SNV
Germline

Chr11:108141701

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA233439

rs_727503796

7 SubmittersRCV000180090 RCV000790759

NM_000019.4(ACAT1):c.60G>C (p.Arg20=)

SNV
Germline

Chr11:108121666

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase
ACAT1-related disorder

Criteria Provided
Conflicting Classifications

CA238541

rs_77311724

4 SubmittersRCV000173048 RCV001086332 RCV003927577

NM_000019.4(ACAT1):c.941-14C>T

SNV
Germline

Chr11:108143969

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

CA239079

rs_12801620

3 SubmittersRCV000173616 RCV001106416

NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)

SNV
Germline

Chr11:108138917

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA275331

rs_762991875

6 SubmittersRCV000179236 RCV000779680

NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)

SNV
Germline

Chr11:108138935

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA275332

rs_199524907

10 SubmittersRCV000179237 RCV000723373 RCV004020139

NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)

SNV
Germline

Chr11:108140108

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA275375

rs_370720208

4 SubmittersRCV000179698 RCV000844797

NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)

SNV
Germline

Chr11:108141639

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase
not specified

Criteria Provided
Conflicting Classifications

CA275415

rs_794727893

4 SubmittersRCV000180091 RCV000844809 RCV003230437

NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)

SNV
Germline

Chr11:108140138

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA10586129

rs_879255505

3 SubmittersRCV000239383

NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)

SNV
Germline

Chr11:108142500

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase
ACAT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603085

rs_886041122

8 SubmittersRCV000318454 RCV000844818 RCV003417871

NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)

SNV
Germline

Chr11:108147359

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

CA10603786

rs_886042080

3 SubmittersRCV000370142 RCV000811411

NM_000019.4(ACAT1):c.15G>C (p.Ala5=)

SNV
Germline

Chr11:108121621

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

CA10637477

rs_886047594

2 SubmittersRCV000305898

NM_000019.4(ACAT1):c.532T>C (p.Leu178=)

SNV
Germline

Chr11:108138994

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

CA6263152

rs_370063325

2 SubmittersRCV000269072

NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)

SNV
Germline

Chr11:108144021

Conflicting classifications of pathogenicity

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6263324

rs_150038447

5 SubmittersRCV001785553 RCV000387013 RCV003165821

NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)

SNV
Germline

Chr11:108147335

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

CA6263411

rs_767412638

4 SubmittersRCV000341325

NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)

SNV
Germline

Chr11:108140107

Pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA6263171

rs_532190594

7 SubmittersRCV000434420 RCV000689417

NM_000019.4(ACAT1):c.1006-1G>C

SNV
Germline

Chr11:108146201

Pathogenic

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382508322

rs_1131691567

6 SubmittersRCV000002970 RCV000493713

NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)

SNV
Germline

Chr11:108146356

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

CA6263371

rs_748303093

6 SubmittersRCV000493456 RCV000662283

NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)

SNV
Germline

Chr11:108134256

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591362402

1 SubmittersRCV000799776

NM_000019.4(ACAT1):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:108121607

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1305448140

3 SubmittersRCV000844765

NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:108121608

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_120074142

2 SubmittersRCV000844766

NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)

SNV
Germline

Chr11:108131913

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591360326

1 SubmittersRCV000844767

NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)

SNV
Germline

Chr11:108131933

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1469248513

1 SubmittersRCV000844770

NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)

SNV
Germline

Chr11:108133917

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_779758622

4 SubmittersRCV000844774

NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr11:108134268

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1233969418

3 SubmittersRCV000844776

NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)

SNV
Germline

Chr11:108135177

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591363715

1 SubmittersRCV000844781

NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)

SNV
Germline

Chr11:108135178

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1037467160

1 SubmittersRCV000844782

NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)

SNV
Germline

Chr11:108135184

Pathogenic/Likely pathogenic

Condition: not provided
Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1278227329

5 SubmittersRCV003442119 RCV000844783

NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)

SNV
Germline

Chr11:108135187

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591363760

3 SubmittersRCV000844784

NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)

SNV
Germline

Chr11:108135202

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591363786

1 SubmittersRCV000844785

NM_000019.4(ACAT1):c.431A>C (p.His144Pro)

SNV
Germline

Chr11:108135238

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1025180934

2 SubmittersRCV000844787

NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)

SNV
Germline

Chr11:108139018

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591367592

1 SubmittersRCV000844793

NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)

SNV
Germline

Chr11:108139040

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_541517496

3 SubmittersRCV000844794

NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)

SNV
Germline

Chr11:108139040

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_541517496

5 SubmittersRCV000844795

NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)

SNV
Germline

Chr11:108140140

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1437567292

3 SubmittersRCV000844798

NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)

SNV
Germline

Chr11:108140159

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1385465985

1 SubmittersRCV000844801

NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)

SNV
Germline

Chr11:108141633

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_983216159

1 SubmittersRCV000844806

NM_000019.4(ACAT1):c.844A>C (p.Asn282His)

SNV
Germline

Chr11:108142454

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_750195919

1 SubmittersRCV000844814

NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)

SNV
Germline

Chr11:108142500

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_886041122

2 SubmittersRCV000844817

NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)

SNV
Germline

Chr11:108142511

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1420321267

3 SubmittersRCV000844819

NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)

SNV
Germline

Chr11:108143991

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_780486838

3 SubmittersRCV000844823

NM_000019.4(ACAT1):c.951C>T (p.Asp317=)

SNV
Germline

Chr11:108143993

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_747714452

3 SubmittersRCV000844824

NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)

SNV
Germline

Chr11:108144010

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase
not specified

Criteria Provided
Conflicting Classifications

rs_755806238

3 SubmittersRCV000844825 RCV002307633

NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)

SNV
Germline

Chr11:108146236

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1338023969

2 SubmittersRCV000844833

NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)

SNV
Germline

Chr11:108146255

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591374629

2 SubmittersRCV000844834

NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)

SNV
Germline

Chr11:108146255

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591374629

1 SubmittersRCV000844835

NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)

SNV
Germline

Chr11:108146257

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591374632

1 SubmittersRCV000844836

NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)

SNV
Germline

Chr11:108146320

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase
ACAT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_373771053

7 SubmittersRCV000844837 RCV003396461

NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)

SNV
Germline

Chr11:108146359

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_773491386

1 SubmittersRCV000844838

NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)

SNV
Germline

Chr11:108147273

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_377295639

3 SubmittersRCV000844840

NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)

SNV
Germline

Chr11:108147274

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1184088336

1 SubmittersRCV000844841

NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)

SNV
Germline

Chr11:108147295

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_746332363

3 SubmittersRCV000844842

NM_000019.4(ACAT1):c.121-13T>A

SNV
Germline

Chr11:108133807

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591361903

1 SubmittersRCV000844772

NM_000019.4(ACAT1):c.121-3C>G

SNV
Germline

Chr11:108133817

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_1591361919

2 SubmittersRCV000844771

NM_000019.4(ACAT1):c.334+1G>A

SNV
Germline

Chr11:108134317

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591362533

1 SubmittersRCV000844779

NM_000019.4(ACAT1):c.435+1G>A

SNV
Germline

Chr11:108135243

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591363834

3 SubmittersRCV000844788

NM_000019.4(ACAT1):c.730+1G>A

SNV
Germline

Chr11:108140216

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591368919

1 SubmittersRCV000844802

NM_000019.4(ACAT1):c.826+5G>T

SNV
Germline

Chr11:108141705

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1591370366

1 SubmittersRCV000844811

NM_000019.4(ACAT1):c.940+1G>T

SNV
Germline

Chr11:108142551

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591371185

2 SubmittersRCV000844820

NM_000019.4(ACAT1):c.941-9T>A

SNV
Germline

Chr11:108143974

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_980651269

1 SubmittersRCV000844821

NM_000019.4(ACAT1):c.1006-1G>A

SNV
Germline

Chr11:108146201

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691567

2 SubmittersRCV000844828

NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)

SNV
Germline

Chr11:108141646

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753816946

4 SubmittersRCV000910746 RCV003392689

NM_000019.4(ACAT1):c.239-8T>A

SNV
Germline

Chr11:108134213

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_202030208

2 SubmittersRCV000907288

NM_000019.4(ACAT1):c.436-4G>C

SNV
Germline

Chr11:108138894

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_3741050

3 SubmittersRCV000948317

NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)

SNV
Germline

Chr11:108140127

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_761282960

1 SubmittersRCV001071621

NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)

SNV
Germline

Chr11:108146245

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1367121673

2 SubmittersRCV001064187

NM_000019.4(ACAT1):c.940+2T>C

SNV
Germline

Chr11:108142552

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_963023006

1 SubmittersRCV001042879

NM_000019.4(ACAT1):c.378T>C (p.Cys126=)

SNV
Germline

Chr11:108135185

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_536301499

2 SubmittersRCV001103374

NM_000019.4(ACAT1):c.858G>A (p.Leu286=)

SNV
Germline

Chr11:108142468

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_143892373

3 SubmittersRCV001105289

NM_000019.4(ACAT1):c.1191T>C (p.His397=)

SNV
Germline

Chr11:108147297

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_1439617035

2 SubmittersRCV001108623

NM_000019.4(ACAT1):c.941-13T>C

SNV
Germline

Chr11:108143970

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_760991373

2 SubmittersRCV001106417

NM_000019.4(ACAT1):c.826+2T>G

SNV
Unknown

Chr11:108141702

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2077590197

1 SubmittersRCV001196560

NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)

SNV
Germline

Chr11:108146224

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_149171104

3 SubmittersRCV001247395 RCV002568679

NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)

SNV
Germline

Chr11:108147296

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2134797745

1 SubmittersRCV001378187

NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)

SNV
Germline

Chr11:108146296

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2134791556

1 SubmittersRCV001390020

NM_000019.4(ACAT1):c.1163+1G>A

SNV
Germline

Chr11:108146360

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_1423476705

2 SubmittersRCV001385168

NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)

SNV
Germline

Chr11:108138964

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_577313004

3 SubmittersRCV001410479 RCV004038066

NM_000019.4(ACAT1):c.138T>C (p.Ser46=)

SNV
Germline

Chr11:108133837

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Conflicting Classifications

rs_763375578

2 SubmittersRCV001472639

NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)

SNV
Germline

Chr11:108133830

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2135334430

1 SubmittersRCV001647335

NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala)

SNV
Germline

Chr11:108134245

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_1565288701

1 SubmittersRCV001647336

NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)

SNV
Germline

Chr11:108146313

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134791703

2 SubmittersRCV001647338

NM_000019.4(ACAT1):c.238+2T>A

SNV
Germline

Chr11:108133939

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135334862

2 SubmittersRCV001805743

NM_000019.4(ACAT1):c.731-2A>G

SNV
Germline

Chr11:108141603

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_752216720

1 SubmittersRCV001806313

NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)

SNV
Germline

Chr11:108146310

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134791667

2 SubmittersRCV001936720

NM_000019.4(ACAT1):c.579+2T>A

SNV
Germline

Chr11:108139043

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_112950994

1 SubmittersRCV001991912

NM_000019.4(ACAT1):c.120+1G>C

SNV
Germline

Chr11:108131955

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_779908220

2 SubmittersRCV002017830

NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)

SNV
Germline

Chr11:108141637

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2134768688

1 SubmittersRCV001939398

NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)

SNV
Germline

Chr11:108141661

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2134768866

1 SubmittersRCV001960646

NM_000019.4(ACAT1):c.826+2T>C

SNV
Germline

Chr11:108141702

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2077590197

1 SubmittersRCV002014601

NM_000019.4(ACAT1):c.121-2A>G

SNV
Germline

Chr11:108133818

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2135334384

1 SubmittersRCV002025782

NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)

SNV
Germline

Chr11:108147295

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_746332363

1 SubmittersRCV001931272

NM_000019.4(ACAT1):c.1005+1G>A

SNV
Germline

Chr11:108144048

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2134780623

1 SubmittersRCV002030148

NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr11:108134298

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_2135336400

1 SubmittersRCV001900561

NM_000019.4(ACAT1):c.120+1G>T

SNV
Germline

Chr11:108131955

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_779908220

1 SubmittersRCV001998899

NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)

SNV
Germline

Chr11:108141607

Pathogenic/Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134768525

2 SubmittersRCV001959024

NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)

SNV
Germline

Chr11:108147273

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_377295639

1 SubmittersRCV001963701

NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln)

SNV
Germline

Chr11:108140092

Conflicting classifications of pathogenicity

Deficiency of acetyl-CoA acetyltransferase
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200498630

2 SubmittersRCV002145989 RCV003222396

NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)

SNV
Germline

Chr11:108134235

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

rs_748425041

1 SubmittersRCV002238660

NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr11:108135240

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV002283674

NM_000019.4(ACAT1):c.335-2A>G

SNV
Germline

Chr11:108135140

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV002833996

NM_000019.4(ACAT1):c.73-1G>A

SNV
Germline

Chr11:108131906

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV002848197

NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)

SNV
Germline

Chr11:108134283

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003044420

NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)

SNV
Germline

Chr11:108131938

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003039225

NM_000019.4(ACAT1):c.238+2T>C

SNV
Germline

Chr11:108133939

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003226625

NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)

SNV
Unknown

Chr11:108135226

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003474425

NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)

SNV
Unknown

Chr11:108121676

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003460285

NM_000019.4(ACAT1):c.1005+2T>G

SNV
Unknown

Chr11:108144049

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003460290

NM_000019.4(ACAT1):c.580-2A>G

SNV
Unknown

Chr11:108140063

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003460291

NM_000019.4(ACAT1):c.120+1G>A

SNV
Germline

Chr11:108131955

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003501161

NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr11:108147316

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003500033

NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)

SNV
Germline

Chr11:108140113

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003606208

NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr11:108133916

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003606430

NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:108121607

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003605530

NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)

SNV
Germline

Chr11:108133862

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003606633

NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)

SNV
Germline

Chr11:108146355

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003810932

NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)

SNV
Germline

Chr11:108138945

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003839079

NM_000019.4(ACAT1):c.334+2T>A

SNV
Germline

Chr11:108134318

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV003839361

NM_000019.4(ACAT1):c.1163G>C (p.Gly388Ala)

SNV
Germline

Chr11:108146359

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV004566519

NM_000019.4(ACAT1):c.731-1G>A

SNV
Unknown

Chr11:108141604

Likely pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV004575437

NM_000019.4(ACAT1):c.238+1G>A

SNV
Unknown

Chr11:108133938

Pathogenic

Deficiency of acetyl-CoA acetyltransferase

Criteria Provided
Single Submitter

1 SubmittersRCV004575440