List of variants in gene ACAT1 reported as likely pathogenic for beta-ketothiolase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	rs762991875	0.00006
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)	rs727503795	0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)	rs370720208	0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)	rs767412638	0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	rs747714452	0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)	rs794727893	0.00002
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)	rs755806238	0.00002
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)	rs120074143	0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)	rs748303093	0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)	rs377295639	0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)	rs761086326	0.00001
NM_000019.4(ACAT1):c.120+1G>C	rs779908220	0.00001
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)	rs748425041	0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs)	rs1565281236	0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)	rs1278227329	0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)	rs1591363760	0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)	rs120074148	0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	rs148639841	0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs)	rs1565293957	0.00001
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.826+5_826+9del	rs1410743762	0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)	rs1420321267	0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NM_000019.4(ACAT1):c.1005+1G>A	rs2134780623
NM_000019.4(ACAT1):c.1005+2T>G
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup)	rs1591374552
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	rs387906282
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)	rs1338023969
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)	rs1565297769
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)	rs1367121673
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)	rs1591374629
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)	rs1591374629
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)	rs1591374632
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)	rs2134791667
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)	rs120074140
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)	rs377295639
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)	rs1184088336
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)	rs746332363
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)	rs2134797745
NM_000019.4(ACAT1):c.120+1G>A
NM_000019.4(ACAT1):c.120+1G>T	rs779908220
NM_000019.4(ACAT1):c.121-2A>G	rs2135334384
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer)	rs1591375882
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)	rs886042080
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)	rs2135334430
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)	rs1444451434
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)	rs1591361995
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)	rs779758622
NM_000019.4(ACAT1):c.238+2T>A	rs2135334862
NM_000019.4(ACAT1):c.238+2T>C
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)	rs866364527
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)	rs1201662412
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala)	rs1565288701
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)	rs120074145
NM_000019.4(ACAT1):c.334+2T>A
NM_000019.4(ACAT1):c.335-2A>G
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)	rs1591363715
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)	rs1037467160
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)	rs1591363786
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)	rs1591363795
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
NM_000019.4(ACAT1):c.431A>C (p.His144Pro)	rs1025180934
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)	rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs)	rs1415293773
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)	rs1591367592
NM_000019.4(ACAT1):c.571del (p.Ile191fs)	rs761038005
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)	rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	rs541517496
NM_000019.4(ACAT1):c.579+2T>A	rs112950994
NM_000019.4(ACAT1):c.580-2A>G
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)	rs1591368794
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.64_72+10del	rs1318268067
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)	rs879255505
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)	rs1437567292
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)	rs1385465985
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
NM_000019.4(ACAT1):c.73-1G>A
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)	rs2134768525
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del)	rs765961551
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)	rs983216159
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs)	rs1163072872
NM_000019.4(ACAT1):c.826+2T>G	rs2077590197
NM_000019.4(ACAT1):c.826+5G>T	rs1591370366
NM_000019.4(ACAT1):c.844A>C (p.Asn282His)	rs750195919
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)	rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)	rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs)	rs398123097
NM_000019.4(ACAT1):c.940+1G>T	rs1591371185
NM_000019.4(ACAT1):c.940+2T>C	rs963023006
NM_000019.4(ACAT1):c.940+2dup	rs2134773243

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