| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) +3 more | |
| | | Single nucleotide variant (missense variant) | Biotin-responsive basal ganglia disease +2 more | |
| | | Single nucleotide variant (missense variant) | Biotin-responsive basal ganglia disease +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Biotin-responsive basal ganglia disease +1 more | |
| | | Duplication (frameshift variant) | Biotin-responsive basal ganglia disease +1 more | |
Click to view in NCBI Gene