| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Neuronal ceroid lipofuscinosis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | PPT1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PPT1-related disorder +3 more | |
| | | Single nucleotide variant (nonsense) | Neuronal Ceroid-Lipofuscinosis, Recessive +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 1 +1 more | |
Click to view in NCBI Gene