ClinVar for MedGen (Select 280689) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854711.	NM_000019.4(ACAT1):c.459G>A (p.Met153Ile) GRCh37: Chr11:108009648 GRCh38: Chr11:108138921	ACAT1	M48I, M63I, M54I, M153I	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance	criteria provided, single submitter
Select item 25725492.	NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly) GRCh37: Chr11:108009716 GRCh38: Chr11:108138989	ACAT1	E176G, E71G, E77G, E86G	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance	criteria provided, single submitter
Select item 25010283.	NM_000019.4(ACAT1):c.238+2T>C GRCh37: Chr11:108004666 GRCh38: Chr11:108133939	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely pathogenic (Mar 31, 2023)	criteria provided, single submitter
Select item 24388254.	NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys) GRCh37: Chr11:108010804 GRCh38: Chr11:108140077	ACAT1	E108K, E198K, E93K, E99K	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Mar 29, 2021)	criteria provided, single submitter
Select item 24221435.	NC_000011.9:g.(?_108006357)_(108009701_?)del GRCh37: Chr11:108006357-108009701	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 24221426.	NC_000011.9:g.(?_108009615)_(108018127_?)del GRCh37: Chr11:108009615-108018127	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 24221417.	NC_000011.9:g.(?_108016909)_(108017106_?)del GRCh37: Chr11:108016909-108017106	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 24189798.	NM_000019.4(ACAT1):c.721dup (p.Thr241fs) GRCh37: Chr11:108010932-108010933 GRCh38: Chr11:108140205-108140206	ACAT1	T136fs, T142fs, T151fs, T241fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 24132129.	NM_000019.4(ACAT1):c.14C>T (p.Ala5Val) GRCh37: Chr11:107992347 GRCh38: Chr11:108121620	ACAT1	A5V	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 220173910.	NM_000019.4(ACAT1):c.435+11C>T GRCh37: Chr11:108005980 GRCh38: Chr11:108135253	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 219762711.	NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr) GRCh37: Chr11:108010919 GRCh38: Chr11:108140192	ACAT1	I236T, I131T, I137T, I146T	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Jul 2, 2021)	criteria provided, single submitter
Select item 219600212.	NM_000019.4(ACAT1):c.475G>A (p.Val159Ile) GRCh37: Chr11:108009664 GRCh38: Chr11:108138937	ACAT1	V60I, V159I, V69I, V54I	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 218397113.	NM_000019.4(ACAT1):c.335-20G>C GRCh37: Chr11:108005849 GRCh38: Chr11:108135122	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 218260014.	NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu) GRCh37: Chr11:108018016 GRCh38: Chr11:108147289	ACAT1	V395L, V402L, V290L, V296L, V305L	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 218001515.	NM_000019.4(ACAT1):c.15G>T (p.Ala5=) GRCh37: Chr11:107992348 GRCh38: Chr11:108121621	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 217834116.	NM_000019.4(ACAT1):c.941-17C>A GRCh37: Chr11:108014693 GRCh38: Chr11:108143966	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 217808517.	NM_000019.4(ACAT1):c.234G>A (p.Lys78=) GRCh37: Chr11:108004660 GRCh38: Chr11:108133933	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 217740618.	NM_000019.4(ACAT1):c.826+16T>C GRCh37: Chr11:108012443 GRCh38: Chr11:108141716	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 217237519.	NM_000019.4(ACAT1):c.941-16C>A GRCh37: Chr11:108014694 GRCh38: Chr11:108143967	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 217232720.	NM_000019.4(ACAT1):c.51C>A (p.Pro17=) GRCh37: Chr11:107992384 GRCh38: Chr11:108121657	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 216932321.	NM_001386678.1(ACAT1):c.120+2267_120+2268del GRCh37: Chr11:108004947-108004948 GRCh38: Chr11:108134220-108134221	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Jul 10, 2022)	criteria provided, single submitter
Select item 216773622.	NM_000019.4(ACAT1):c.730+6G>C GRCh37: Chr11:108010948 GRCh38: Chr11:108140221	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216282423.	NM_000019.4(ACAT1):c.72+6C>A GRCh37: Chr11:107992411 GRCh38: Chr11:108121684	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215735924.	NM_000019.4(ACAT1):c.879G>A (p.Leu293=) GRCh37: Chr11:108013216 GRCh38: Chr11:108142489	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 215021525.	NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser) GRCh37: Chr11:108005874 GRCh38: Chr11:108135147	ACAT1	P15S, P114S, P24S	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 214998726.	NM_000019.4(ACAT1):c.941-20C>A GRCh37: Chr11:108014690 GRCh38: Chr11:108143963	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 214673427.	NM_000019.4(ACAT1):c.940+15_940+25del GRCh37: Chr11:108013291-108013301 GRCh38: Chr11:108142564-108142574	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 214663828.	NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr) GRCh37: Chr11:108004635 GRCh38: Chr11:108133908	ACAT1	I70T	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 214651429.	NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser) GRCh37: Chr11:107992364 GRCh38: Chr11:108121637	ACAT1	G11S	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 214250830.	NM_000019.4(ACAT1):c.886A>T (p.Met296Leu) GRCh37: Chr11:108013223 GRCh38: Chr11:108142496	ACAT1	M191L, M197L, M206L, M296L	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 214249731.	NM_000019.4(ACAT1):c.435+12C>T GRCh37: Chr11:108005981 GRCh38: Chr11:108135254	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 213020332.	NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter) GRCh37: Chr11:108005010 GRCh38: Chr11:108134283	ACAT1	Q101, Q11	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 212759633.	NM_000019.4(ACAT1):c.835del (p.Thr279fs) GRCh37: Chr11:108013171 GRCh38: Chr11:108142444	ACAT1	T189fs, T180fs, T279fs, T174fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 212343334.	NM_000019.4(ACAT1):c.1164-4T>C GRCh37: Chr11:108017993 GRCh38: Chr11:108147266	ACAT1	F394S	Deficiency of acetyl-CoA acetyltransferase	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 211863735.	NM_000019.4(ACAT1):c.1089C>T (p.Asn363=) GRCh37: Chr11:108017012 GRCh38: Chr11:108146285	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211748836.	NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter) GRCh37: Chr11:108002665 GRCh38: Chr11:108131938	ACAT1	S35*	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211598037.	NM_000019.4(ACAT1):c.99T>C (p.Tyr33=) GRCh37: Chr11:108002660 GRCh38: Chr11:108131933	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211519738.	NM_000019.4(ACAT1):c.580-93_626del GRCh37: Chr11:108010695-108010834 GRCh38: Chr11:108139968-108140107	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 211274839.	NM_000019.4(ACAT1):c.826+7G>A GRCh37: Chr11:108012434 GRCh38: Chr11:108141707	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211028740.	NM_000019.4(ACAT1):c.121-8C>T GRCh37: Chr11:108004539 GRCh38: Chr11:108133812	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 210352341.	NM_000019.4(ACAT1):c.855A>C (p.Thr285=) GRCh37: Chr11:108013192 GRCh38: Chr11:108142465	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210116242.	NM_000019.4(ACAT1):c.75_76del (p.Glu25fs) GRCh37: Chr11:108002635-108002636 GRCh38: Chr11:108131908-108131909	ACAT1	E25fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 209925643.	NM_000019.4(ACAT1):c.542_543del (p.Lys181fs) GRCh37: Chr11:108009729-108009730 GRCh38: Chr11:108139002-108139003	ACAT1	K82fs, K91fs, K181fs, K76fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 208453944.	NM_000019.4(ACAT1):c.1248A>G (p.Gly416=) GRCh37: Chr11:108018081 GRCh38: Chr11:108147354	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 208208445.	NM_000019.4(ACAT1):c.940+7C>G GRCh37: Chr11:108013284 GRCh38: Chr11:108142557	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 208139046.	NM_000019.4(ACAT1):c.1081C>T (p.Leu361=) GRCh37: Chr11:108017004 GRCh38: Chr11:108146277	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 207854247.	NM_000019.4(ACAT1):c.1192T>C (p.Leu398=) GRCh37: Chr11:108018025 GRCh38: Chr11:108147298	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 206490348.	NM_000019.4(ACAT1):c.133G>C (p.Val45Leu) GRCh37: Chr11:108004559 GRCh38: Chr11:108133832	ACAT1	V45L	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 206148149.	NM_000019.4(ACAT1):c.941-15C>G GRCh37: Chr11:108014695 GRCh38: Chr11:108143968	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 205579750.	NM_000019.4(ACAT1):c.1245A>G (p.Gly415=) GRCh37: Chr11:108018078 GRCh38: Chr11:108147351	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 205330551.	NM_000019.4(ACAT1):c.405G>T (p.Met135Ile) GRCh37: Chr11:108005939 GRCh38: Chr11:108135212	ACAT1	M36I, M135I, M45I	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 205250852.	NM_000019.4(ACAT1):c.960A>G (p.Val320=) GRCh37: Chr11:108014729 GRCh38: Chr11:108144002	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 204987053.	NM_000019.4(ACAT1):c.76A>G (p.Ile26Val) GRCh37: Chr11:108002637 GRCh38: Chr11:108131910	ACAT1	I26V	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 204900454.	NM_000019.4(ACAT1):c.876T>C (p.Ala292=) GRCh37: Chr11:108013213 GRCh38: Chr11:108142486	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 204502455.	NM_000019.4(ACAT1):c.537T>C (p.Ile179=) GRCh37: Chr11:108009726 GRCh38: Chr11:108138999	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203548356.	NM_000019.4(ACAT1):c.930A>G (p.Ala310=) GRCh37: Chr11:108013267 GRCh38: Chr11:108142540	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203418157.	NM_000019.4(ACAT1):c.615T>C (p.Asn205=) GRCh37: Chr11:108010827 GRCh38: Chr11:108140100	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 202511458.	NM_000019.4(ACAT1):c.73-1G>A GRCh37: Chr11:108002633 GRCh38: Chr11:108131906	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 202488259.	NM_000019.4(ACAT1):c.73-10T>G GRCh37: Chr11:108002624 GRCh38: Chr11:108131897	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 202399160.	NM_000019.4(ACAT1):c.747G>C (p.Val249=) GRCh37: Chr11:108012348 GRCh38: Chr11:108141621	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 202378061.	NM_000019.4(ACAT1):c.1179G>A (p.Arg393=) GRCh37: Chr11:108018012 GRCh38: Chr11:108147285	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 202156462.	NM_000019.4(ACAT1):c.1128C>A (p.Ile376=) GRCh37: Chr11:108017051 GRCh38: Chr11:108146324	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 201972063.	NM_000019.4(ACAT1):c.21T>G (p.Leu7=) GRCh37: Chr11:107992354 GRCh38: Chr11:108121627	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 201955864.	NM_000019.4(ACAT1):c.24G>T (p.Leu8=) GRCh37: Chr11:107992357 GRCh38: Chr11:108121630	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 201563465.	NM_000019.4(ACAT1):c.1077T>G (p.Val359=) GRCh37: Chr11:108017000 GRCh38: Chr11:108146273	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201180966.	NM_000019.4(ACAT1):c.170del (p.Gly57fs) GRCh37: Chr11:108004595 GRCh38: Chr11:108133868	ACAT1	G57fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 201045467.	NM_000019.4(ACAT1):c.335-2A>G GRCh37: Chr11:108005867 GRCh38: Chr11:108135140	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely pathogenic (Jun 25, 2022)	criteria provided, single submitter
Select item 201044268.	NM_000019.4(ACAT1):c.1164-4T>G GRCh37: Chr11:108017993 GRCh38: Chr11:108147266	ACAT1	F394C	Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 200608169.	NM_000019.4(ACAT1):c.744_746del (p.Val250del) GRCh37: Chr11:108012343-108012345 GRCh38: Chr11:108141616-108141618	ACAT1	V145del, V160del, V250del, V151del	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200366670.	NM_000019.4(ACAT1):c.272del (p.Met91fs) GRCh37: Chr11:108004981 GRCh38: Chr11:108134254	ACAT1	M1fs, M91fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 200127371.	NM_000019.4(ACAT1):c.330dup (p.Ala111fs) GRCh37: Chr11:108005038-108005039 GRCh38: Chr11:108134311-108134312	ACAT1	A21fs, A111fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 200061372.	NM_000019.4(ACAT1):c.867A>T (p.Gly289=) GRCh37: Chr11:108013204 GRCh38: Chr11:108142477	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199299773.	NM_000019.4(ACAT1):c.335-4T>G GRCh37: Chr11:108005865 GRCh38: Chr11:108135138	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 199194374.	NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter) GRCh37: Chr11:108010857-108010858 GRCh38: Chr11:108140130-108140131	ACAT1	S218, S113, S128, S119	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 198807975.	NM_000019.4(ACAT1):c.375_376del (p.Ala127fs) GRCh37: Chr11:108005908-108005909 GRCh38: Chr11:108135181-108135182	ACAT1	A28fs, A37fs, A127fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 198774076.	NM_000019.4(ACAT1):c.742G>A (p.Val248Ile) GRCh37: Chr11:108012343 GRCh38: Chr11:108141616	ACAT1	V149I, V158I, V248I, V143I	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 198231577.	NM_000019.4(ACAT1):c.315G>A (p.Arg105=) GRCh37: Chr11:108005024 GRCh38: Chr11:108134297	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 197617978.	NM_000019.4(ACAT1):c.9G>A (p.Val3=) GRCh37: Chr11:107992342 GRCh38: Chr11:108121615	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 196489679.	NM_000019.4(ACAT1):c.826+3_826+6del GRCh37: Chr11:108012428-108012431 GRCh38: Chr11:108141701-108141704	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 196349180.	NM_000019.4(ACAT1):c.239-13T>G GRCh37: Chr11:108004935 GRCh38: Chr11:108134208	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 193727981.	NM_000019.4(ACAT1):c.1023A>G (p.Gly341=) GRCh37: Chr11:108016946 GRCh38: Chr11:108146219	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 193344682.	NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser) GRCh37: Chr11:107992382 GRCh38: Chr11:108121655	ACAT1	P17S	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 193281983.	NM_000019.4(ACAT1):c.934A>G (p.Ile312Val) GRCh37: Chr11:108013271 GRCh38: Chr11:108142544	ACAT1	I207V, I213V, I222V, I312V	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 192680084.	NM_000019.4(ACAT1):c.861T>C (p.Asn287=) GRCh37: Chr11:108013198 GRCh38: Chr11:108142471	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 192288885.	NM_000019.4(ACAT1):c.826+10A>G GRCh37: Chr11:108012437 GRCh38: Chr11:108141710	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 192256686.	NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His) GRCh37: Chr11:108018052 GRCh38: Chr11:108147325	ACAT1	Y407H, Y414H, Y302H, Y308H, Y317H	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 190632387.	NM_000019.4(ACAT1):c.303A>G (p.Gln101=) GRCh37: Chr11:108005012 GRCh38: Chr11:108134285	ACAT1	K9R	Deficiency of acetyl-CoA acetyltransferase	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 190518388.	NM_000019.4(ACAT1):c.731-20T>G GRCh37: Chr11:108012312 GRCh38: Chr11:108141585	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 190334189.	NM_000019.4(ACAT1):c.1096A>G (p.Met366Val) GRCh37: Chr11:108017019 GRCh38: Chr11:108146292	ACAT1	M276V, M366V, M261V, M267V	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 190165290.	NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala) GRCh37: Chr11:108014745 GRCh38: Chr11:108144018	ACAT1	P227A, P326A, P221A, P236A	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 190137591.	NM_000019.4(ACAT1):c.1006-7A>T GRCh37: Chr11:108016922 GRCh38: Chr11:108146195	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 189729992.	NM_000019.4(ACAT1):c.1018G>A (p.Val340Met) GRCh37: Chr11:108016941 GRCh38: Chr11:108146214	ACAT1	V250M, V241M, V340M, V235M	Deficiency of acetyl-CoA acetyltransferase	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 189667293.	NM_000019.4(ACAT1):c.806_807del (p.Thr269fs) GRCh37: Chr11:108012406-108012407 GRCh38: Chr11:108141679-108141680	ACAT1	T164fs, T170fs, T269fs, T179fs	not provided, Deficiency of acetyl-CoA acetyltransferase	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180570694.	NM_000019.4(ACAT1):c.369_372del (p.Asn123fs) GRCh37: Chr11:108005900-108005903 GRCh38: Chr11:108135173-108135176	ACAT1	N123fs, N24fs, N33fs	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 170536095.	NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter) GRCh37: Chr11:108005967 GRCh38: Chr11:108135240	ACAT1	Q145, Q46, Q55*	Deficiency of acetyl-CoA acetyltransferase	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 168337496.	NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) GRCh37: Chr11:108004962 GRCh38: Chr11:108134235	ACAT1	E85*	Deficiency of acetyl-CoA acetyltransferase	Likely pathogenic (Apr 14, 2022)	criteria provided, single submitter
Select item 167240597.	NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile) GRCh37: Chr11:108002674 GRCh38: Chr11:108131947	ACAT1	T38I	Deficiency of acetyl-CoA acetyltransferase	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 166965498.	NM_000019.4(ACAT1):c.180C>G (p.Ser60=) GRCh37: Chr11:108004606 GRCh38: Chr11:108133879	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jan 7, 2021)	criteria provided, single submitter
Select item 166891999.	NM_000019.4(ACAT1):c.174C>T (p.Ser58=) GRCh37: Chr11:108004600 GRCh38: Chr11:108133873	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 1666905100.	NM_000019.4(ACAT1):c.681A>G (p.Glu227=) GRCh37: Chr11:108010893 GRCh38: Chr11:108140166	ACAT1		Deficiency of acetyl-CoA acetyltransferase	Likely benign (Dec 27, 2020)	criteria provided, single submitter

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