| | | Copy number loss | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +4 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase +2 more | |
| | | Single nucleotide variant (intron variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of acetyl-CoA acetyltransferase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Deletion (frameshift variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Duplication (frameshift variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Deficiency of acetyl-CoA acetyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Deletion (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Deletion (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | ACAT1-related condition | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Duplication (frameshift variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Deletion (frameshift variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Microsatellite (frameshift variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Microsatellite (frameshift variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (nonsense +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Indel (splice acceptor variant +2 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (intron variant) | Deficiency of acetyl-CoA acetyltransferase | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (synonymous variant +3 more) | Deficiency of acetyl-CoA acetyltransferase | |