| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Biotin-responsive basal ganglia disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene