| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130065345, PANK2 (S169fs +1 more) | Deletion (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +2 more | GConflicting classifications of pathogenicity |
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