| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (nonsense) | Autosomal recessive Parkinson disease 14 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autism +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with brain iron accumulation 2B | |
Click to view in NCBI Gene