Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Peripheral motor neuropathy, childhood-onset, biotin-responsive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration, infantile-onset, biotin-responsive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
Click to view in NCBI Gene