| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | PANK2, LOC130065345 (R183fs +1 more) | Insertion (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration +1 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Pigmentary pallidal degeneration | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +2 more) | Pigmentary pallidal degeneration | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (intron variant) | Pigmentary pallidal degeneration | |
| | | Deletion (inframe_deletion +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration | |
| | | Single nucleotide variant (stop lost +1 more) | Pigmentary pallidal degeneration | |
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