Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Neuronal ceroid lipofuscinosis 7 +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Neuronal ceroid lipofuscinosis 7 +1 more | GConflicting classifications of pathogenicity |
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