| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration with brain iron accumulation 5 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene