| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Biotinidase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Biotinidase deficiency | |
| | | Duplication (frameshift variant +2 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene