| | LOC126861081, LOC126861082 +1036 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +1097 more | Copy number gain | See cases | |
| | LOC130004745, LOC130004746 +802 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861096, LOC126861097 +438 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +418 more | Copy number loss | See cases | |
| | LOC130004871, LOC130004872 +409 more | Copy number loss | See cases | |
| | LOC130004930, LOC130004931 +399 more | Copy number loss | See cases | |
| | LOC110120892, LOC110120898 +395 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +383 more | Copy number loss | See cases | |
| | LOC130004912, LOC130004913 +164 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +361 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +182 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Duplication | Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Duplication (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (intron variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ACADSB-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (nonsense +1 more) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Deletion (frameshift variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Duplication (frameshift variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ACADSB-related condition | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (intron variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (intron variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |