| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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 (missense variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 2B | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 2B +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Neurodegeneration with brain iron accumulation 2B | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with brain iron accumulation 2B | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive Parkinson disease 14 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration with brain iron accumulation 2B | |
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