| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Peripheral motor neuropathy, childhood-onset, biotin-responsive +1 more | |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration, infantile-onset, biotin-responsive | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene