| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABRAXAS2, ACADSB
+514 more | Copy number gain | 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 | Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more | |
Click to view in NCBI Gene