| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130065345, PANK2 (Y80N +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | |
| | | Single nucleotide variant (missense variant +2 more) | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | |
| | | Single nucleotide variant (splice donor variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration | |
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