| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 7 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | TPP1-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 2 +2 more | |
| | | Single nucleotide variant (nonsense) | Abnormality of the nervous system +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +5 more | |
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