| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +1 more) | not provided +1 more | |
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