| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 2 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive spinocerebellar ataxia 7 | |
Click to view in NCBI Gene