| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | ACADSB-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Deficiency of 2-methylbutyryl-CoA dehydrogenase | |
| | ABLIM1, ABRAXAS2
+146 more | Copy number gain | not provided | |
| | | Copy number loss | Distal 10q deletion syndrome | |
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