| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 6 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia, type 12 +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
Click to view in NCBI Gene