| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration, infantile-onset, biotin-responsive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration, infantile-onset, biotin-responsive | GPathogenic/Likely pathogenic |
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