| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Biotinidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Biotinidase deficiency | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Biotinidase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Biotinidase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Biotinidase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
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